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Ontology Browser
Term:
Autosomal Recessive Spinocerebellar Ataxia 29 (DOID:9008984)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Spinocerebellar Ataxia 29 
A progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (OMIM)

Synonyms
Exact Synonyms: BAVAHAKA ;   Barakat-van Ham-Kaya syndrome ;   NEDHCA ;   SCAR29 ;   neurodevelopmental disorder with hypotonia and cerebellar ataxia
Replaced By: DOID:0070410

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