Name
Waardenburg Syndrome, Type 2E
Synonmys
HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION ,
WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT ,
WAARDENBURG SYNDROME, TYPE IIE ,
WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
Classification
developmental,
genetic,
otorhinolaryngological,
skin
Associated Genes
SOX10
(Withdrawn symbols:
DOM,
SOX-10,
WS2E,
WS4
)
Mouse Orthologs
Sox10
(Withdrawn symbols:
Dom,
Sox21,
gt
)
Source
OMIM:611584 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)