NEK9 (NIMA related kinase 9)

Gene

• Entrez ID: 91754
• Gene name: NIMA related kinase 9
• Gene symbol: NEK9
• Synonyms: APUG, LCCS10, NC, NERCC, NERCC1
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142859694	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs757011098	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs879253775	A>G	Pathogenic	Coding sequence variant, missense variant
rs886037838	C>A	Pathogenic	Splice donor variant
rs886037839	C>A	Pathogenic	Coding sequence variant, missense variant
rs901508820	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057518379	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555352529	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002635	hsa-miR-124-3p	Microarray	18668037
MIRT002635	hsa-miR-124-3p	Microarray	15685193
MIRT002635	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT029337	hsa-miR-26b-5p	Microarray	19088304
MIRT040420	hsa-miR-615-3p	CLASH	23622248
MIRT042950	hsa-miR-324-3p	CLASH	23622248
MIRT052110	hsa-let-7b-5p	CLASH	23622248
MIRT655888	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT655889	hsa-miR-4279	HITS-CLIP	23824327
MIRT655890	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT655891	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT655892	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT655893	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT655894	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT655895	hsa-miR-1976	HITS-CLIP	23824327
MIRT655896	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT655897	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT655898	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT655899	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT655900	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT655901	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT655902	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT655903	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT655904	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT655905	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT655906	hsa-miR-6861-3p	HITS-CLIP	23824327
MIRT655907	hsa-miR-4751	HITS-CLIP	23824327
MIRT655908	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT655909	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT655910	hsa-miR-4509	HITS-CLIP	23824327
MIRT655911	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT655912	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT655913	hsa-miR-6891-5p	HITS-CLIP	23824327
MIRT655914	hsa-miR-3173-3p	HITS-CLIP	23824327
MIRT667245	hsa-miR-7703	HITS-CLIP	23824327
MIRT667246	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT667247	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT667248	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT667249	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT667250	hsa-miR-4252	HITS-CLIP	23824327
MIRT667251	hsa-miR-4299	HITS-CLIP	23824327
MIRT667252	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT667253	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT667254	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT667255	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667256	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT667257	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT667258	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT667259	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT701464	hsa-miR-665	HITS-CLIP	23313552
MIRT701465	hsa-miR-1273e	HITS-CLIP	23313552
MIRT701466	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT701467	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT701468	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT701469	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT701470	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT701471	hsa-miR-1827	HITS-CLIP	23313552
MIRT701472	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT701473	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT701474	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT701475	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT701476	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT701477	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT701478	hsa-miR-4478	HITS-CLIP	23313552
MIRT701479	hsa-miR-4419b	HITS-CLIP	23313552
MIRT701480	hsa-miR-3929	HITS-CLIP	23313552
MIRT701481	hsa-miR-940	HITS-CLIP	23313552
MIRT701482	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT701483	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT701484	hsa-miR-302f	HITS-CLIP	23313552
MIRT701485	hsa-miR-606	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20562859, 21642957, 22939624, 25852190, 26496610, 27173435
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007077	Process	Mitotic nuclear envelope disassembly	TAS
GO:0019901	Function	Protein kinase binding	IPI	19001501
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 609798
• HGNC: 18591
• e!Ensembl: ENSG00000119638

Protein

• UniProt ID: Q8TD19
• Protein name: Serine/threonine-protein kinase Nek9 (EC 2.7.11.1) (Nercc1 kinase) (Never in mitosis A-related kinase 9) (NimA-related protein kinase 9) (NimA-related kinase 8) (Nek8)
• Protein function: Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively.
• PDB: 3ZKE, 3ZKF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	52 → 308	Protein kinase domain	Domain
  PF00415	RCC1	389 → 441	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	444 → 495	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	499 → 547	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	615 → 665	Regulator of chromosome condensation (RCC1) repeat	Repeat

• Sequence:

  MSVLGEYERHCDSINSDFGSESGGCGDSSPGPSASQGPRAGGGAAEQEELHYIPIRVLGR
  GAFGEATLYRRTEDDSLVVWKEVDLTRLSEKERRDALNEIVILALLQHDNIIAYYNHFMD
  NTTLLIELEYCNGGNLYDKILRQKDKLFEEEMVVWYLFQIVSAVSCIHKAGILHRDIKTL
  NIFLTKANLIKLGDYGLAKKLNSEYSMAETLVGTPYYMSPELCQGVKYNFKSDIWAVGCV
  IFELLTLKRTFDATNPLNLCVKIVQGIRAMEVDSSQYSLELIQMVHSCLDQDPEQRPTAD
  ELLDRPLLRKRRREMEEKVTLLNAPTKRPRSSTVTEAPIAVVTSRTSEVYVWGGGKSTPQ
  KLDVIKSGCSARQVCAGNTHFAVVTVEKELYTWVNMQGGTKLHGQLGHGDKASYRQPKHV
  EKLQGKAIRQVSCGDDFTVCVTDEGQLYAFGSDYYGCMGVDKVAGPEVLEPMQLNFFLSN
  PVEQVSCGDNHVVVLTRNKEVYSWGCGEYGRLGLDSEEDYYTPQKVDVPKALIIVAVQCG
  CDGTFLLTQSGKVLACGLNEFNKLGLNQCMSGIINHEAYHEVPYTTSFTLAKQLSFYKIR
  TIAPGKTHTAAIDERGRLLTFGCNKCGQLGVGNYKKRLGINLLGGPLGGKQVIRVSCGDE
  FTIAATDDNHIFAWGNGGNGRLAMTPTERPHGSDICTSWPRPIFGSLHHVPDLSCRGWHT
  ILIVEKVLNSKTIRSNSSGLSIGTVFQSSSPGGGGGGGGGEEEDSQQESETPDPSGGFRG
  TMEADRGMEGLISPTEAMGNSNGASSSCPGWLRKELENAEFIPMPDSPSPLSAAFSESEK
  DTLPYEELQGLKVASEAPLEHKPQVEASSPRLNPAVTCAGKGTPLTPPACACSSLQVEVE
  RLQGLVLKCLAEQQKLQQENLQIFTQLQKLNKKLEGGQQVGMHSKGTQTAKEEMEMDPKP
  DLDSDSWCLLGTDSCRPSL

• Sequence length: 979

Pathways

Reactome:

Activation of NIMA Kinases NEK9, NEK6, NEK7
Nuclear Pore Complex (NPC) Disassembly
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs-1, 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
Cataract	Cataract	rs118203965, rs118203966, rs-1, 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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs-1, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs-1, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Lethal congenital contracture syndrome	LETHAL CONGENITAL CONTRACTURE SYNDROME 10	rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923, rs779432560, rs539703340, rs886041057, rs368085516, rs750803388, rs775011495, rs144659252, rs1595795343, rs1595795307, rs755420151	26908619
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Skeletal dysplasia	NEK9-related lethal skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098, rs-1
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs-1, rs1569044747, rs200806519
Nevus comedonicus	Nevus comedonicus, Nevus comedonicus syndrome	rs1555352529, rs879253775	27153399

Unknown
Disease name	Disease term	dbSNP ID	References
Hamartoma	Hamartoma	rs140172891, rs143083812, rs34545616, rs587778688, rs2228617
Arthrogryposis, perthes disease, and upward gaze palsy	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY	rs142859694, rs61746426	26633546, 21271645
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Comedone	Comedone
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Congenital hypoplasia of thymus	Congenital hypoplasia of thymus
Congenital omphalocele	Congenital omphalocele
High palate	Byzanthine arch palate
Micrognathism	Micrognathism
Overriding aorta	Overriding aorta
Pena shokeir syndrome	Pena-Shokeir syndrome type I
Phakomatosis pigmentovascularis	Port-Wine Stain
Pulmonary stenosis	Pulmonary Stenosis
Radial polydactyly	Radial polydactyly
Spina bifida occulta	Spina Bifida Occulta
Syndactyly of fingers	Syndactyly of fingers
Syndactyly of the toes	Syndactyly of the toes