ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

COMMON GENES: 1

5 OMIM references -
3 associated genes
13 signs/symptoms

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Waardenburg syndrome type 2
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: C536463

Waardenburg syndrome type 2
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Premature greying of hair - Sensorineural deafness / hearing loss Frequent - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy
Ocular albinism with congenital sensorineural deafness
(no data available)