ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 27

OBO ID: DOID:0111616

Term Name:	autosomal recessive spinocerebellar ataxia 27		Search Ontology:
Synonyms:	SCAR27
Definition:	An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. https://www.ncbi.nlm.nih.gov/pubmed/30084953
References:	OMIM:618369
Ontology:	Human Disease ( DOID:0111616 )

Relationships

is a type of:	autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia Show first 5 Terms

OTHER autosomal recessive spinocerebellar ataxia 27 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GDAP2	gdap2	Spinocerebellar ataxia, autosomal recessive 27	618369

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None