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TUBB3 (tubulin beta 3 class III)

Gene

10381

Tubulin beta 3 class III

TUBB3

CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4

16q24.3

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and

Show/Hide all(30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34174718	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142238093	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs147283850	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs267607162	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607163	G>A	Pathogenic	Missense variant, coding sequence variant
rs267607164	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267607165	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587784505	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs747480526	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs864321714	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321715	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321716	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs864321717	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853256	A>G	Pathogenic	Missense variant, coding sequence variant
rs878853257	G>A	Pathogenic	Missense variant, coding sequence variant
rs878853258	C>T	Pathogenic	Missense variant, coding sequence variant
rs878853279	A>G	Pathogenic	Missense variant, coding sequence variant
rs886039497	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041459	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518593	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518686	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521924	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794940	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795231	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308026	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691632	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691895	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555625363	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555625571	G>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000196	hsa-miR-200c-3p	Western blot	20049172
MIRT000196	hsa-miR-200c-3p	ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19435871
MIRT000196	hsa-miR-200c-3p	ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19435871
MIRT016480	hsa-miR-193b-3p	Proteomics	21512034
MIRT019563	hsa-miR-340-5p	Sequencing	20371350
MIRT028482	hsa-miR-30a-5p	Proteomics	18668040
MIRT031664	hsa-miR-16-5p	Proteomics	18668040
MIRT049056	hsa-miR-92a-3p	CLASH	23622248
MIRT016480	hsa-miR-193b-3p	CLASH	23622248
MIRT041009	hsa-miR-505-3p	CLASH	23622248
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Western blot	23806972
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Luciferase reporter assay, Western blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCR, Western blot	28003747
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463338	hsa-miR-1254	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463340	hsa-miR-1972	CLIP-seq
MIRT1463341	hsa-miR-3116	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463342	hsa-miR-3617	CLIP-seq
MIRT1463343	hsa-miR-4254	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463344	hsa-miR-4633-3p	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT1463346	hsa-miR-4650-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT1463348	hsa-miR-558	CLIP-seq
MIRT1463349	hsa-miR-641	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653307	hsa-miR-2277-3p	CLIP-seq
MIRT2653308	hsa-miR-3120-3p	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653312	hsa-miR-4787-5p	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
HIF1A	Unknown	21176881
REST	Repression	22684772
REST	Unknown	22159867
SOX11	Unknown	21124928
SOX2	Repression	20739473

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21044950, 24021646, 28483977
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005874	Component	Microtubule	IDA	21525035
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0007411	Process	Axon guidance	IMP	20074521
GO:0007411	Process	Axon guidance	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	ISS
GO:0038007	Process	Netrin-activated signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990791	Process	Dorsal root ganglion development	IDA	28483977
GO:1990890	Function	Netrin receptor binding	IPI	28483977

MIM	HGNC	e!Ensembl
602661	20772	ENSG00000258947

Protein

UniProt ID

Q13509

Protein name

Tubulin beta-3 chain (Tubulin beta-4 chain) (Tubulin beta-III)

Protein function

Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubul

PDB

5IJ0 , 5IJ9 , 5JCO , 6E7B , 6S8L , 6WSL , 7LXB , 7M18 , 7M20 , 7PJF , 7SJ7 , 7SJ8 , 7SJ9 , 7SJA , 7Z6S , 8VRJ , 8VRK , 8VT7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00091	Tubulin	3 → 212	Tubulin/FtsZ family, GTPase domain	Domain
PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

Sequence

MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYV
PRAILVDLEPGTMDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVV
RKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSDTVV
EPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMM
AACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRG
LKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATAEEEGEMYEDDEEESEAQGPK

Sequence length

450

Interactions

View interactions

	KEGG		Reactome
	Phagosome Gap junction Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Pathogenic Escherichia coli infection Salmonella infection		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) Recruitment of NuMA to mitotic centrosomes Recycling pathway of L1 Hedgehog 'off' state Cilium Assembly Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin HCMV Early Events Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins

Associated diseases

Show/Hide Causal Diseases (21)

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	21781528
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	21781528
Congenital fibrosis of extraocular muscles	Congenital Fibrosis of the Extraocular Muscles, Congenital fibrosis of extraocular muscles	rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs267603451	20074521
Cortical dysplasia with other brain malformations	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034, rs587777035, rs398122369, rs886037663, rs587777355, rs587777356, rs587777357, rs587777570, rs587784498, rs587784502, rs587784505, rs797046074, rs864321717, rs878853162, rs878853279, rs878853284, rs886039447, rs747480526, rs886041459, rs1057518249, rs1057517908, rs1057521924, rs1064795249, rs1064795334, rs1131691895, rs1135401758, rs1554042050, rs1554126886, rs1554126925, rs1554122959, rs1553463778, rs1561273261, rs760139097, rs1413537928, rs778294237, rs1581525728, rs1472207337, rs1599166793, rs1599137041, rs1599155642, rs1580059038, rs1581496351, rs1581526962, rs1581525683, rs1581668624, rs201922441	25008804, 20829227, 29706646
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Fibrosis of extraocular muscles	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	rs121912585, rs121912586, rs267607200, rs1590729541, rs1178102382, rs267607162, rs267607163, rs267607164, rs267607165, rs587784505, rs780209390, rs886037741, rs864321715, rs864321716, rs864321717, rs1057517908	20074521, 27428177, 20829227
Hydrocephalus	Hydrocephalus, Normal Pressure	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lissencephaly	Lissencephaly	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Spastic diplegia	Little`s Disease	rs672601336
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	21781528
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	23503589, 24612975, 23378218, 20074521, 20829227, 24257358, 25059107, 25559402, 26639658, 25482575
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	18497984
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Spastic ataxia	Spastic Ataxia	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828
Tubulinopathy-associated dysgyria	Tubulinopathy-associated dysgyria	rs137853044, rs587784491, rs1942166930

Show/Hide Unknown Diseases (34)

Unknown
Disease name	Disease term	dbSNP ID	References
Cubitus valgus	Acquired cubitus valgus
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		21781528
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cobblestone lissencephaly	Cobblestone Lissencephaly
Congenital epicanthus	Congenital Epicanthus
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital microcephaly	Congenital microcephaly
Cortical dysgenesis with pontocerebellar hypoplasia	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysplasia	Cortical Dysplasia
Dysarthria	Dysarthria
Dysgenesis of the hippocampus	Dysgenesis of the hippocampus
Esotropia	Esotropia
Exotropia	Exotropia
Focal seizures	Focal seizures, afebril
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypoplasia of the olfactory bulb	Hypoplasia of the olfactory bulb
Hypoplasia of the optic nerve	Hypoplasia of the optic nerve
Malformation of cortical development	Malformations of Cortical Development, Group II		29706646
Micrognathism	Micrognathism
Mood swings	Mood swings
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Ovarian neoplasm	ovarian neoplasm		18497984
Partial agenesis of corpus callosum	Partial agenesis of corpus callosum
Plagiocephaly	Plagiocephaly
Ptosis	Blepharoptosis, Ptosis	rs139920573
Restrictive external opthalmoplegia	Nonprogressive restrictive external ophthalmoplegia
Sensorineural hearing loss	Sensorineural hearing loss, bilateral
Social communication disorder	Social Communication Disorder
Spastic quadriplegia	Spastic Quadriplegia
Stereotyped behavior	Stereotyped Behavior
Strabismus	Strabismus

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