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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
..Starting node ..Waardenburg Syndrome (D014849)
Child Nodes:
........ABCD syndrome (C535334)
........Anophthalmos with limb anomalies (C537769)
........Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
........Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
........Waardenburg syndrome type 2 (C536463)
........Waardenburg syndrome type 2A (C536464)
........Waardenburg syndrome type 2B (C536465)
........Waardenburg Syndrome, Type 2C (C564684)
........Waardenburg Syndrome, Type 2D (C563839)
........Waardenburg syndrome, type 4 (C536467) 1
........Waardenburg Syndrome, Type 4b (C567680)
........Waardenburg Syndrome, Type 4c (C567679)
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..3-Methylglutaconic Aciduria Type IV (C565393)
..3C syndrome (C535313)
..Aase Smith syndrome (C535332)
..Ablepharon macrostomia syndrome (C535557)
..Acrocephalopolydactylous Dysplasia (C573722)
..Acromegaloid features, overgrowth, cleft palate, and hernia (C535656)
..Adducted Thumbs Syndrome (C562949) 1
..Agenesis of Cerebellar Vermis (C580212)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Aksu von Stockhausen syndrome (C535611)
..Al Gazali Aziz Salem syndrome (C535613)
..Al-Gazali Syndrome (C536817)
..Alagille Syndrome (D016738)
..Alstrom Syndrome (D056769)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome (C565796)
..Angelman Syndrome (D017204) 1
..Anisomastia (C565299)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Aughton syndrome (C538269)
..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axial mesodermal dysplasia spectrum (C537790)
..Bamforth syndrome (C537901)
..Bardet-Biedl Syndrome (D020788) 13
..Barth Syndrome (D056889) 2
..Basal Cell Nevus Syndrome (D001478) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Ben Ari Shuper Mimouni syndrome (C535427)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Beta-Ureidopropionase Deficiency (C563210)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bloom Syndrome (D001816)
..Bowen syndrome (C538164)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brachymesomelia renal syndrome (C537096)
..Branchio-Oto-Renal Syndrome (D019280) 5
..Branchiogenic-Deafness Syndrome (C563780)
..Broad Terminal Phalanges, Familial (C566588)
..Burnett Schwartz Berberian syndrome (C537412)
..Carney Complex (D056733) 1
..Cerebrofaciothoracic Dysplasia (C565862)
..Cerebrofrontofacial Syndrome (C563904)
..Cervical ribs sprengel anomaly anal atresia urethral obstruction (C538072)
..Char syndrome (C566815)
..CHARGE Syndrome (D058747)
..Chemke Oliver Mallek syndrome (C535922)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..Chromosome 17q21.31 Deletion Syndrome (C566476)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..Chromosome 1q43-Q44 Deletion Syndrome (C567346)
..Chromosome 22q11.2 Deletion Syndrome, Distal (C567511)
..Chromosome 22q11.2 Microduplication Syndrome (C567224)
..Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..Chromosome 2q32-Q33 Deletion Syndrome (C567350)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..COACH syndrome (C536430)
..Cockayne Syndrome (D003057) 6
..Coffin-Siris syndrome (C536436)
..Cold-Induced Sweating Syndrome 1 (C564791)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Costello Syndrome (D056685)
..Costocoracoid ligament congenitally short (C536448)
..Craniofacial deafness hand syndrome (C536453)
..Craniofaciofrontodigital Syndrome (C567298)
..Craniofacioskeletal Syndrome (C567471)
..Craniomicromelic Syndrome (C566522)
..Craniosynostosis Syndrome, Autosomal Recessive (C564700)
..Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..Cree Mental Retardation Syndrome (C564654)
..Cri-du-Chat Syndrome (D003410) 6
..Crumpled helices and small mouth (C536217)
..Cryptomicrotia brachydactyly syndrome (C536219)
..De Lange Syndrome (D003635) 1
..Deaf-Blind Disorders (D054062) 26
..Deafness nephritis ano rectal malformation (C535996)
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Desmosterolosis (C566555)
..Devriendt syndrome (C535947)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Dincsoy Salih Patel syndrome (C536177)
..DK Phocomelia Syndrome (C565618)
..Donohue Syndrome (D056731) 1
..Down Syndrome (D004314) 6
..Ectodermal Dysplasia (D004476) 144
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Elliott Ludman Teebi syndrome (C536204)
..Ellis Yale Winter syndrome (C536205)
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Facio thoraco genital syndrome (C536387)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Feingold Trainer syndrome (C536179)
..Femur bifid with monodactylous ectrodactyly (C537917)
..Femur fibula ulna syndrome (C537918)
..Fibrochondrogenesis (C562524)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Fine-Lubinsky syndrome (C537933)
..Flat umbilicus familial (C537059)
..Floating-harbor syndrome (C537062)
..Forney Robinson Pascoe syndrome (C537269)
..Fountain syndrome (C537270)
..Fraser Jequier Chen syndrome (C535481)
..Fraser Syndrome (D058497)
..Fried Goldberg Mundel syndrome (C535640)
..Gardner Morrisson Abbot syndrome (C535643)
..Gardner Syndrome (D005736) 3
..GEMSS syndrome (C537679)
..Genee-Wiedemann syndrome (C537680)
..Glutamyl Ribose-5-Phosphate Storage Disease (C564422)
..Gomez Lopez Hernandez syndrome (C537285)
..Gonadal Dysgenesis, XY Type, with Associated Anomalies (C565536)
..Gorlin Chaudhry Moss syndrome (C537290)
..Grant syndrome (C537293)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hand foot uterus syndrome (C535627)
..Hanhart syndrome (C535629)
..Harrod Doman Keele syndrome (C535635)
..Heart defects limb shortening (C535850)
..Hecht Scott syndrome (C535856)
..Hecht syndrome (C535857)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hersh Podruch Weisskopk syndrome (C538114)
..Heterotaxy Syndrome (D059446) 7
..HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holoprosencephaly (D016142) 22
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Hunter-Macdonald Syndrome (C567445)
..Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
..Hyperphosphatasia with Mental Retardation (C565495) 2
..Hypomelia mullerian duct anomalies (C537155)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypophosphatemia, Renal, with Intracerebral Calcifications (C565478)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Incontinentia Pigmenti (D007184) 2
..Insulin-Like Growth Factor I, Resistance To (C564816)
..Iris dysplasia hypertelorism deafness (C535537)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Jequier Kozlowski skeletal dysplasia (C537569)
..Jung Wolff Back Stahl syndrome (C537694)
..Kabuki syndrome (C537705)
..Kapur Toriello syndrome (C537008)
..Kashani Strom Utley syndrome (C537010)
..Kasznica Carlson Coppedge syndrome (C537011)
..KBG syndrome (C537015)
..Keratoconus Posticus Circumscriptus with Associated Malformations (C565455)
..Keutel syndrome (C536167)
..Kleiner Holmes syndrome (C536885)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Kosztolanyi syndrome (C537024)
..Kozlowski Brown Hardwick syndrome (C537506)
..Krauss Herman Holmes syndrome (C537618)
..Krieble Bixler syndrome (C537619)
..Kyphomelic dysplasia (C538128)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen like syndrome, lethal type (C537872)
..Larsen syndrome, recessive type (C537874)
..Larsen-Like Syndrome (C563914)
..Lateral meningocele syndrome (C537878)
..Lateral semicircular canal malformation, familial, with external and middle ear abnormalities (C537879)
..Laurence-Moon Syndrome (D007849)
..Laurin-Sandrow syndrome (C535689)
..Le Marec Bracq Picaud syndrome (C536997)
..Lenz Majewski hyperostotic dwarfism (C537115)
..LEOPARD Syndrome (D044542) 2
..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..Light Fixation Seizure Syndrome (C566367)
..Loeys-Dietz Syndrome (D055947) 5
..Lopes Gorlin syndrome (C537036)
..Lowry Maclean syndrome (C537037)
..Lutz Richner Landolt syndrome (C537726)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..Macrosomia with lethal microphthalmia (C537830)
..Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693)
..Malpuech facial clefting syndrome (C535704)
..Manouvrier syndrome (C535708)
..Marden Walker like syndrome (C535909)
..Marden-Walker syndrome (C535910)
..Marfan Syndrome (D008382) 9
..Marles Greenberg Persaud syndrome (C536022)
..Marshall-Smith syndrome (C536026)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Megacystis microcolon intestinal hypoperistalsis syndrome (C536138) 1
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Megarbane Jalkh Syndrome (C548071)
..Megarbane syndrome (C536145)
..Mehes syndrome (C536146)
..Melhem Fahl syndrome (C537238)
..Mental Retardation, Buenos Aires Type (C563095)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mesomelia-synostoses syndrome (C537348)
..Mesomelic Limb Shortening and Bowing (C565404)
..Michels Caskey syndrome (C537576)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microdontia hypodontia short stature (C537553)
..Microspherophakia with hernia (C537468)
..Mobius Syndrome (D020331) 4
..Monilethrix (D056734) 1
..Morillo-Cucci Passarge syndrome (C536983)
..MORM syndrome (C536984)
..Mousa Al din Al Nassar syndrome (C536989)
..Mucolipidosis II Alpha Beta (C567100)
..Muller Barth Menger syndrome (C537370)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple pterygium syndrome (C537377) 1
..Nablus mask-like facial syndrome (C536110)
..Nail-Patella Syndrome (D009261) 1
..Nasopalpebral lipoma coloboma syndrome (C538338)
..Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
..Netherton Syndrome (D056770)
..Neu Laxova syndrome (C536405)
..Neurofaciodigitorenal syndrome (C537388)
..Nevus, Sebaceous of Jadassohn (D054000) 1
..Novak syndrome (C537851)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Oculocerebrorenal Syndrome (D009800) 1
..Oculootoradial syndrome (C535544)
..Oculopalatocerebral Syndrome (C564935)
..Oculorenocerebellar syndrome (C537739)
..Orofaciodigital Syndromes (D009958) 14
..Oslam syndrome (C537138)
..Palant cleft palate syndrome (C538102)
..Pallister W syndrome (C538106)
..Pallister-Hall Syndrome (D054975)
..Patterson pseudoleprechaunism syndrome (C536310)
..Pelvis-Shoulder Dysplasia (C566811)
..Penoscrotal transposition (C536650)
..Pentalogy of Cantrell (D058502)
..Perisylvian syndrome (C536658)
..Petty Laxova Wiedemann syndrome (C537886)
..Pfeiffer Kapferer syndrome (C537887)
..Pfeiffer Mayer syndrome (C537888)
..Pfeiffer Palm Teller syndrome (C537889)
..Pfeiffer Tietze Welte syndrome (C537891)
..Piepkorn Karp Hickok syndrome (C535774)
..Pierson syndrome (C537185)
..Pilotto syndrome (C537400)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Podder-Tolmie syndrome (C537518)
..POEMS Syndrome (D016878)
..Pointer syndrome (C536323)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Powell Chandra Saal syndrome (C538357)
..Prader-Willi Syndrome (D011218) 2
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Premature aging, Okamoto type (C535270)
..Primrose syndrome (C536420)
..Prolidase Deficiency (D056732)
..Proteus Syndrome (D016715) 1
..Prune Belly Syndrome (D011535) 3
..Pseudoaminopterin syndrome (C535823)
..Pterygium colli mental retardation digital anomalies (C535831)
..Pulmonary Hypoplasia, Primary (C562992)
..Qazi Markouizos syndrome (C536259)
..Radial defect Robin sequence (C536261)
..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
..Radial ray hypoplasia choanal atresia (C536263)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Raine syndrome (C535282)
..Ramos Arroyo Clark syndrome (C535286)
..Renal hepatic pancreatic dysplasia Dandy Walker cyst (C537756)
..Renal Tubular Dysgenesis With Choanal Atresia And Athelia (C567491)
..Rozin Hertz Goodman syndrome (C535876)
..Rubella Syndrome, Congenital (D012410)
..Rubinstein-Taybi Syndrome (D012415) 2
..Rudiger Syndrome (C562912)
..Ruvalcaba Syndrome (C579395)
..Saal Bulas syndrome (C537193)
..Sackey Sakati Aur syndrome (C537219)
..Sacral defect and anterior sacral meningocele (C537221)
..Sacral meningocele conotruncal heart defects (C537223)
..Samson Viljoen syndrome (C537231)
..Sanderson Fraser syndrome (C537232)
..Sandhaus Ben-Ami syndrome (C537233)
..Sao Paulo MCA/MR Syndrome (C563119)
..Say Field Coldwell syndrome (C536619)
..Say Meyer syndrome (C536620)
..Say syndrome (C536621)
..Scalp ear nipple syndrome (C536623)
..SCARF syndrome (C536625)
..Schaefer Stein Oshman syndrome (C536627)
..Schinzel-Giedion syndrome (C536632)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Scott Bryant Graham syndrome (C537528)
..Seaver Cassidy syndrome (C537529)
..Seckel like syndrome type Buebel (C537532)
..Seemanova Lesny syndrome (C537536)
..Seow Najjar syndrome (C537584)
..Sharma Kapoor Ramji syndrome (C537595)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..Shprintzen omphalocele syndrome (C537329)
..Siegler Brewer Carey syndrome (C537335)
..Silengo Lerone Pelizza syndrome (C537336)
..Silver-Russell Syndrome (D056730) 1
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocarpotarsal synostosis (C535780)
..Spondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Stevenson-Carey Syndrome (C567446)
..Stoelinga de Koomen Davis syndrome (C537496)
..Tamari Goodman syndrome (C536896)
..Teebi Shaltout syndrome (C536950)
..Teebi syndrome (C536951)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tetraamelia multiple malformations (C536500)
..Thakker Donnai syndrome (C536503)
..Thomas Jewett Raines syndrome (C536513)
..Thomas syndrome (C536514)
..Thoracolaryngopelvic dysplasia (C536517)
..Thymic Aplasia with Fetal Death (C564768)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tollner Horst Manzke syndrome (C536964)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Tricho-dento-osseous syndrome 1 (C536550)
..Trichothiodystrophy Syndromes (D054463) 5
..Triphalangeal thumbs brachyectrodactyly (C536564)
..Trisomy 18-Like Syndrome (C563382)
..Tsukahara Syndrome (C566376)
..Ulnar-mammary syndrome (C536937)
..Urioste Martinez-Frias syndrome (C536478)
..Urogenital adysplasia (C536481)
..Uropathy distal obstructive polydactyly (C536483)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Van der Woude syndrome (C536528) 1
..Van der Woude syndrome 2 (C536529)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Velofacioskeletal syndrome (C536536)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Vohwinkel syndrome (C536457)
..Waardenburg Syndrome (D014849) 13
..Walbaum Titran Durieux Crepin syndrome (C536566)
..Warburg Sjo Fledelius syndrome (C536681)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Weill-Marchesani Syndrome (D056846)
..Weyers acrofacial dysostosis (C536695)
..Weyers ulnar ray/oligodactyly syndrome (C536696)
..White forelock with malformations (C536700)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Winchester syndrome (C536709)
..Winter Harding Hyde syndrome (C536712)
..Wolf-Hirschhorn Syndrome (D054877)
..Wolfram Syndrome (D014929) 1
..Woolly hair, hypotrichosis, everted lower lip and outstanding ears (C536746)
..WT limb blood syndrome (C536751)
..XK aprosencephaly (C536767)
..Yemenite deaf-blind hypopigmentation syndrome (C536771)
..Yim Ebbin syndrome (C536713)
..Zadik Barak Levin syndrome (C536721)
..Zechi-Ceide Syndrome (C567865)
..Zellweger Syndrome (D015211) 3
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11680

Name:

Waardenburg Syndrome

Definition:

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

Alternative IDs:

OMIM:148820|OMIM:193500

ParentIDs:

MESH:D000015

TreeNumbers:

C16.131.077.938

Synonyms:

Slim Mappings:

Congenital abnormality

Reference:

MedGen: D014849
MeSH: D014849
OMIM: 148820;

Genes: PAX3;

Phenotypes

1	HP:0001452	Autosomal dominant contiguous gene syndrome
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002251	Aganglionic megacolon
4	HP:0000581	Blepharophimosis
5	HP:0000635	Blue irides
6	HP:0001156	Brachydactyly
7	HP:0100490	Camptodactyly of finger
8	HP:0009702	Carpal synostosis
9	HP:0030084	Clinodactyly
10	HP:0010554	Cutaneous finger syndactyly
11	HP:0001100	Heterochromia iridis
12	HP:0001053	Hypopigmented skin patches
13	HP:0001249	Intellectual disability
14	HP:0009473	Joint contracture of the hand
15	HP:0000303	Mandibular prognathia
16	HP:0000252	Microcephaly
17	HP:0007443	Partial albinism
18	HP:0002216	Premature graying of hair
19	HP:0000426	Prominent nasal bridge
20	HP:0003691	Scapular winging
21	HP:0000407	Sensorineural hearing impairment
22	HP:0001258	Spastic paraplegia
23	HP:0000664	Synophrys
24	HP:0000506	Telecanthus
25	HP:0003828	Variable expressivity
26	HP:0002211	White forelock
27	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_181457.3(PAX3):c.268T>C (p.Tyr90His)	5077	PAX3	Pathogenic	104893654	RCV000004437;	N	MedGen:C0342680,OMIM:148820,SNOMED CT:237918004	2	223161750	223161750	NM_181457.3:c.268T>C	NP_852122.1:p.Tyr90His	NC_000002.11:g.223161750A>G	OMIM Allelic Variant:606597.0013	C0342680 148820 Klein-Waardenberg's syndrome
NM_181457.3(PAX3):c.251C>T (p.Ser84Phe)	5077	PAX3	Pathogenic	104893651	RCV000004433; RCV000004432;	N	MedGen:C0342680,OMIM:148820,SNOMED CT:237918004; MedGen:C1847800,OMIM:193500,ORPHA:894	2	223161767	223161767	NM_181457.3:c.251C>T	NP_852122.1:p.Ser84Phe	NC_000002.11:g.223161767G>A	OMIM Allelic Variant:606597.0009	C0342680 148820 Klein-Waardenberg's syndrome; C1847800 193500 Waardenburg syndrome type 1
NM_181457.3(PAX3):c.139A>C (p.Asn47His)	5077	PAX3	Pathogenic	104893653	RCV000004435;	N	MedGen:C0342680,OMIM:148820,SNOMED CT:237918004	2	223161879	223161879	NM_181457.3:c.139A>C	NP_852122.1:p.Asn47His	NC_000002.11:g.223161879T>G	OMIM Allelic Variant:606597.0011	C0342680 148820 Klein-Waardenberg's syndrome