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)