Birk-aharoni syndrome

Preferred Label : Birk-aharoni syndrome;

Symbol : BKAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss; NEDGTH;

Prefixed ID : #620071;

Details

Origin ID

620071;

UMLS CUI

C5774229;

Genes related to phenotype
- Proteasome 26s subunit, atpase, 1 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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