Disease #01605 (WS2A (Waardenburg syndrome, type 2A (WS2A)), OMIM:193510)

Official abbreviation WS2A
Name Waardenburg syndrome, type 2A (WS2A)
OMIM ID 193510
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 6
Associated with 1 gene MITF
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00037766 - PubMed: Zeco 2015, Journal: Zeco 2015 2-generation family, affected male and heterozygous carrier mother (phenotype unknown) M no Netherlands - - - - - WS2A - KITLG KITLG 1 1 Helger Yntema
00333431 MITF-male - - M no Iran - - - - - WS2A - MITF MITF 1 1 Ehsan Razmara
00380712 W9 PubMed: Batissoco 2021 - M no Brazil - - - - - WS2A - MITF MITF 1 1 Karina Lezirovitz Mandelbaum
00381103 - PubMed: Batissoco 2021 - M no Brazil - - - - - WS2A Bilateral profound SHL (cochlear implanted - different service), iris heterochromia and blonde hair backlock MITF MITF 1 2 Karina Lezirovitz Mandelbaum
00381104 - PubMed: Batissoco 2021 - M no Brazil - - - - - WS2A blonde hair lock behind the ear, normal hearing MITF MITF 1 1 Karina Lezirovitz Mandelbaum
00381532 - PubMed: Batissoco 2021 - M no Brazil - - - - - WS2A profound sensorineural hearing loss, Hypoplastic irides at birth that turned out into partial heterochromia irides after few months MITF MITF 1 1 Karina Lezirovitz Mandelbaum
00408235 F-1 - - M yes China Chinese - - - - WS2A - SOX10 SOX10 1 2 Jian Song
00415811 S-7 - - M yes China Chinese - - - - WS2A - MITF MITF 1 2 Jian Song
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