Disease #00982 (WS4A (Waardenburg syndrome, type 4A (WS4A)), OMIM:277580)

Official abbreviation WS4A
Name Waardenburg syndrome, type 4A (WS4A)
OMIM ID 277580
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease -
Associated with 1 gene EDNRB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00361903 - - - - - - - - - - - WS1, WS4A Heterochromia iris, telecanthus, white forelock, bilateral profound to severe hearing loss and hypopigmented patches of skin on the forehead, chest and upper limbs. Father (II-2) and paternal grandmother (I-2) had heterochromis irides. Mother (II-3) had white forelock - EDNRB, PAX3 2 1 Anju Shukla
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