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Hypotrichosis-deafness syndrome

1 associated gene
No signs/symptoms info

COMMON GENES: 1

Palmoplantar keratoderma-deafness syndrome

1 OMIM reference -
2 associated genes
4 signs/symptoms

Hypotrichosis-deafness syndrome

Palmoplantar keratoderma-deafness syndrome

GJB2	(UniProt - OMIM)		GJB2	(UniProt - OMIM)
			MT-TS1	(OMIM)


COMMON GENES	GJB2

Citations in the biomedical literature:

Hypotrichosis-deafness syndrome		Palmoplantar keratoderma-deafness syndrome
	Synonym(s): (no synonyms)		Synonym(s): - PPK-deafness syndrome - Palmoplantar hyperkeratosis-deafness syndrome - Palmoplantar hyperkeratosis-hearing loss syndrome - Palmoplantar keratoderma-hearing loss syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536152

Palmoplantar keratoderma-deafness syndrome
	Very frequent - Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss
Hypotrichosis-deafness syndrome
(no data available)