Disease #03660 (CCHLND (cataracts, congenital, hearing loss, and neurodegeneration (CCHLND)), OMIM:614482)

Official abbreviation CCHLND
Name cataracts, congenital, hearing loss, and neurodegeneration (CCHLND)
OMIM ID 614482
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene SLC33A1
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Disease features -
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Individuals

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00206468 - - - - - - - - 0 - - CCHLND - SLC33A1 SLC33A1 1 1 SIB - Livia Famiglietti
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