Behr syndrome
Sign in to saveAlso known as Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities, Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss, Optic atrophy, infantile hereditary, Behr complicated form of
medical condition
Research
32 papers- Behr syndrome.Pediatric neurology · 1995
- Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.Journal of neurology · 2020
- Behr syndrome with homozygous C19ORF12 mutation.Journal of the neurological sciences · 2015
- Musculoskeletal deformities in Behr syndrome.Journal of pediatric orthopedics · 2001
- 'Behr syndrome' with OPA1 compound heterozygote mutations.Brain : a journal of neurology · 2015
via PubMed
Wikidata facts
Show 4 more facts
- exact match
- identifiers.org/doid/DOID:0111580
- genetic association
- OPA1
- on focus list of Wikimedia project
- WikiProject Medicine
- NCI Thesaurus ID
- C177251
via Wikidata · CC0