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ALG2 (ALG2 alpha-1,3/1,6-mannosyltransferase)

Gene

85365

ALG2 alpha-1,3/1,6-mannosyltransferase

ALG2

CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2

9q22.33

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diph

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906281	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs730880304	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant

Show/Hide all(252)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023051	hsa-miR-124-3p	Microarray	18668037
MIRT023983	hsa-miR-1-3p	Proteomics	18668040
MIRT027167	hsa-miR-103a-3p	Sequencing	20371350
MIRT031276	hsa-miR-19b-3p	Sequencing	20371350
MIRT031868	hsa-miR-16-5p	Proteomics	18668040
MIRT728356	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031276	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778448	hsa-miR-1236	CLIP-seq
MIRT778449	hsa-miR-124	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778451	hsa-miR-1246	CLIP-seq
MIRT778452	hsa-miR-1258	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778454	hsa-miR-1321	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778456	hsa-miR-144	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778461	hsa-miR-19a	CLIP-seq
MIRT778462	hsa-miR-19b	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778469	hsa-miR-24	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778471	hsa-miR-3138	CLIP-seq
MIRT778472	hsa-miR-3156-5p	CLIP-seq
MIRT778473	hsa-miR-3165	CLIP-seq
MIRT778474	hsa-miR-3182	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT778476	hsa-miR-3192	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778478	hsa-miR-3689d	CLIP-seq
MIRT778479	hsa-miR-3714	CLIP-seq
MIRT778480	hsa-miR-3910	CLIP-seq
MIRT778481	hsa-miR-3929	CLIP-seq
MIRT778482	hsa-miR-3938	CLIP-seq
MIRT778483	hsa-miR-3941	CLIP-seq
MIRT778484	hsa-miR-3942-5p	CLIP-seq
MIRT778485	hsa-miR-3976	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778487	hsa-miR-4264	CLIP-seq
MIRT778488	hsa-miR-4270	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778490	hsa-miR-4284	CLIP-seq
MIRT778491	hsa-miR-4302	CLIP-seq
MIRT778492	hsa-miR-4314	CLIP-seq
MIRT778493	hsa-miR-4419b	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778495	hsa-miR-4436a	CLIP-seq
MIRT778496	hsa-miR-4441	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778498	hsa-miR-4464	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778500	hsa-miR-4478	CLIP-seq
MIRT778501	hsa-miR-4496	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778503	hsa-miR-452	CLIP-seq
MIRT778504	hsa-miR-4520a-3p	CLIP-seq
MIRT778505	hsa-miR-4536	CLIP-seq
MIRT778506	hsa-miR-4639-3p	CLIP-seq
MIRT778507	hsa-miR-4645-3p	CLIP-seq
MIRT778508	hsa-miR-4646-5p	CLIP-seq
MIRT778509	hsa-miR-466	CLIP-seq
MIRT778510	hsa-miR-4672	CLIP-seq
MIRT778511	hsa-miR-4676-3p	CLIP-seq
MIRT778512	hsa-miR-4687-3p	CLIP-seq
MIRT778513	hsa-miR-4698	CLIP-seq
MIRT778514	hsa-miR-4700-3p	CLIP-seq
MIRT778515	hsa-miR-4703-5p	CLIP-seq
MIRT778516	hsa-miR-4731-3p	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778518	hsa-miR-4739	CLIP-seq
MIRT778519	hsa-miR-4740-3p	CLIP-seq
MIRT778520	hsa-miR-4748	CLIP-seq
MIRT778521	hsa-miR-4756-5p	CLIP-seq
MIRT778522	hsa-miR-4760-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT778524	hsa-miR-4795-3p	CLIP-seq
MIRT778525	hsa-miR-4796-3p	CLIP-seq
MIRT778526	hsa-miR-4797-3p	CLIP-seq
MIRT778527	hsa-miR-4797-5p	CLIP-seq
MIRT778528	hsa-miR-4801	CLIP-seq
MIRT778529	hsa-miR-506	CLIP-seq
MIRT778530	hsa-miR-544	CLIP-seq
MIRT778531	hsa-miR-548t	CLIP-seq
MIRT778532	hsa-miR-570	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778534	hsa-miR-606	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778536	hsa-miR-648	CLIP-seq
MIRT778537	hsa-miR-653	CLIP-seq
MIRT778538	hsa-miR-720	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT1929791	hsa-miR-103a	CLIP-seq
MIRT1929792	hsa-miR-107	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778451	hsa-miR-1246	CLIP-seq
MIRT778454	hsa-miR-1321	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778469	hsa-miR-24	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778471	hsa-miR-3138	CLIP-seq
MIRT1929793	hsa-miR-3646	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778488	hsa-miR-4270	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778490	hsa-miR-4284	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778496	hsa-miR-4441	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778504	hsa-miR-4520a-3p	CLIP-seq
MIRT778518	hsa-miR-4739	CLIP-seq
MIRT778521	hsa-miR-4756-5p	CLIP-seq
MIRT1929794	hsa-miR-4762-3p	CLIP-seq
MIRT1929795	hsa-miR-4766-5p	CLIP-seq
MIRT778525	hsa-miR-4796-3p	CLIP-seq
MIRT778531	hsa-miR-548t	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT2170587	hsa-miR-1283	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT2170588	hsa-miR-149	CLIP-seq
MIRT2170589	hsa-miR-193a-5p	CLIP-seq
MIRT778461	hsa-miR-19a	CLIP-seq
MIRT778462	hsa-miR-19b	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT2170590	hsa-miR-3064-5p	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT2170591	hsa-miR-3618	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778485	hsa-miR-3976	CLIP-seq
MIRT778487	hsa-miR-4264	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778491	hsa-miR-4302	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT2170592	hsa-miR-4794	CLIP-seq
MIRT778526	hsa-miR-4797-3p	CLIP-seq
MIRT2170593	hsa-miR-4802-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778536	hsa-miR-648	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778473	hsa-miR-3165	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT2443577	hsa-miR-3678-3p	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT2443577	hsa-miR-3678-3p	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT2473155	hsa-miR-3617	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT2473156	hsa-miR-4263	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT2473157	hsa-miR-576-5p	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT2473158	hsa-miR-641	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT2473156	hsa-miR-4263	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT2473157	hsa-miR-576-5p	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	IBA	21873635
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	IDA	12684507
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	TAS
GO:0004378	Function	GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IDA
GO:0005737	Component	Cytoplasm	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IGI	12684507
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0006490	Process	Oligosaccharide-lipid intermediate biosynthetic process	IBA	21873635
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA
GO:0016021	Component	Integral component of membrane	IEA
GO:0033577	Process	Protein glycosylation in endoplasmic reticulum	IBA	21873635
GO:0033577	Process	Protein glycosylation in endoplasmic reticulum	IGI	12684507
GO:0046982	Function	Protein heterodimerization activity	IPI
GO:0047485	Function	Protein N-terminus binding	IPI
GO:0048306	Function	Calcium-dependent protein binding	IMP
GO:0048306	Function	Calcium-dependent protein binding	IPI
GO:0048471	Component	Perinuclear region of cytoplasm	IDA
GO:0051592	Process	Response to calcium ion	IDA
GO:0097502	Process	Mannosylation	IEA
GO:0102704	Function	GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
607905	23159	ENSG00000119523

Protein

UniProt ID

Q9H553

Protein name

Alpha-1,3/1,6-mannosyltransferase ALG2 (EC 2.4.1.132) (EC 2.4.1.257) (Asparagine-linked glycosylation protein 2 homolog) (GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase) (GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase) (GDP-Man:Man(

Protein function

Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13439	Glyco_transf_4	26 → 206	Glycosyltransferase Family 4	Domain
PF00534	Glycos_transf_1	211 → 393	Glycosyl transferases group 1	Family

Sequence

MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARGCSVKIWTAHYDPGHCF
AESRELPVRCAGDWLPRGLGWGGRGAAVCAYVRMVFLALYVLFLADEEFDVVVCDQVSAC
IPVFRLARRRKKILFYCHFPDLLLTKRDSFLKRLYRAPIDWIEEYTTGMADCILVNSQFT
AAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDDLVPKGKKFLLLSINRYERKKNL
TLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLENVEHYQELKKMVQQSDLGQYVTFL
RSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEAMYMQCPVIAVNSGGPLESIDHSVTGF
LCEPDPVHFSEAIEKFIREPSLKATMGLAGRARVKEKFSPEAFTEQLYRYVTKLLV

Sequence length

416

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG2 causes ALG2-CDG (CDG-1i)

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii, ALG2-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	23404334, 12684507, 27604308
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 14	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	23404334, 23404334, 27604308, 12684507
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
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
Mental retardation	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
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (7)

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital coloboma of iris	Congenital coloboma of iris
Congenital myasthenic syndromes with glycosylation defect	Congenital myasthenic syndromes with glycosylation defect
Facial paralysis	Facial paralysis
High palate	Byzanthine arch palate
Impaired cognition	Impaired cognition
Motor delay	Clumsiness - motor delay
Ptosis	Blepharoptosis, Ptosis	rs139920573

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