Disease #01049 (WS4C (syndrome, Waardenburg, type 4C (WS4C)), OMIM:613266)

Official abbreviation WS4C
Name syndrome, Waardenburg, type 4C (WS4C)
OMIM ID 613266
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SOX10
Associated tissues -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00380716 W7 - - M no Brazil - - - - - WS4C - SOX10 SOX10 1 1 Karina Lezirovitz Mandelbaum
00381529 - - - M no Brazil - - - - - WS4C Bilateral profound sensorineural hearing loss, iris heterochromia, chronic intestinal obstruction, congenital megacolon was suspected at birth not confirmed SOX10 SOX10 1 1 Karina Lezirovitz Mandelbaum
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