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cerebellar atrophy, visual impairment, and psychomotor retardation;

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0014811:  cerebellar atrophy, visual impairment, and psychomotor retardation;
UMLS:C4225172: