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
In the Vinony graph
Vinony's link graph records 7 inbound references to Behr syndrome, and connects out to optics, digital object identifier and International Standard Serial Number.
Vinony files it under Autosomal recessive disorders, Genetic disorders with OMIM but no gene and Neurological disorders.
Vinony links it to 7 Wikipedia language editions.
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
Connections
optics
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digital object identifier
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International Standard Serial Number
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inheritance
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magnetic resonance imaging
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International Statistical Classification of Diseases and Related Health Problems
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PubMed
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autosome
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Medical Subject Headings
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ataxia
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Online Mendelian Inheritance in Man
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Diseases Database
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United States National Institutes of Health
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ICD-10
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rare disease
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Semantic Scholar
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peripheral neuropathy
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mitochondrial disease
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Who Named It?
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zygosity
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