Disease - Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
- DefinitionAn autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging.
- AcronymDEDISB
- Keywords
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Browse 1 entry- Brefeldin A-inhibited guanine nucleotide-exchange protein 1 · Gene: ARFGEF1 (ARFGEP1, BIG1) · Homo sapiens (Human) · 1849 amino acids · Evidence at protein level · Annotation score: 5/5