ZFIN Human Disease: SPOAN syndrome

OBO ID: DOID:0060491

Term Name:	SPOAN syndrome		Search Ontology:
Synonyms:	spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome
Definition:	A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (2)
References:	ICD10CM:G11.4 MESH:C563702 OMIM:609541 ORDO:320406
Ontology:	Human Disease ( DOID:0060491 )

Relationships

is a type of:	autosomal recessive disease neurodegenerative disease autosomal recessive disease neurodegenerative disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KLC2	klc2	Spastic paraplegia, optic atrophy, and neuropathy	609541

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)