Disease #05289 (BEHRS (Behr syndrome (BEHRS)), OMIM:210000)

Official abbreviation	BEHRS
Name	Behr syndrome (BEHRS)
OMIM ID	210000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	OPA1
Associated tissues	-
Disease features	autosomal recessive; early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity and mental retardation
Remarks	-
Date created	2017-06-23 15:28:12 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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Global Variome shared LOVD