ZFIN Human Disease: Behr syndrome

OBO ID: DOID:0111580

Term Name:	Behr syndrome		Search Ontology:
Synonyms:	Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of
Definition:	A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. https://www.ncbi.nlm.nih.gov/pubmed/6747661
References:	GARD:849 MESH:C537669 NCI:C177251 OMIM:210000 SNOMEDCT_US_2023_03_01:66988006 UMLS_CUI:C0221061
Ontology:	Human Disease ( DOID:0111580 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
OPA1	opa1	Behr syndrome	210000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None