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hypotonia, ataxia, and delayed development syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux.
Mondo Term and Equivalent IDs
MONDO:0015021:  hypotonia, ataxia, and delayed development syndrome
UMLS:C4310618: