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Behr syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
Uniprot Description An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade.
Mondo Term and Equivalent IDs
MONDO:0008858:  Behr syndrome
DOID:0111580: 
GARD:0000849: 
MESH:C537669: 
SCTID:718221007: 
UMLS:C0221061: