Behr syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0800181
OPA1-related optic atrophy with or without extraocular features
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BEHRS
related
Behr syndrome
exact
optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss
related
optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
related
optic atrophy, infantile hereditary, Behr complicated form of
related
SPBC1718.06