Last update 19 Sep 2024

Galloway Mowat Syndrome

Basic Info

Synonyms
CAMOS, CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES, GALLOWAY SYNDROME
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Introduction
An autosomal recessive neurodegenerative condition caused by mutation(s) in the WDR73 gene, encoding WD repeat-containing protein 73. It is characterized by microcephaly and severely delayed psychomotor development.

Analysis

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