Albinism-deafness syndrome

A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0007400 Irregular hyperpigmentation Very frequent (99-80%)
HP:0007443 Partial albinism Frequent (79-30%)
HP:0007544 Piebaldism Frequent (79-30%)
HP:0001100 Heterochromia iridis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID