Term Name:	Valence-Farazi cerebellar ataxia syndrome
Synonyms:	VAFCAS
Definition:	An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21.
Ontology:	Human Disease [DOID:0070721]   ( DOID:0070721 )