Disease - Neurodevelopmental disorder with infantile epileptic spasms
- DefinitionAn autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging.
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Browse 1 entry- Neurochondrin · Gene: NCDN (KIAA0607) · Homo sapiens (Human) · 729 amino acids · Evidence at protein level · Annotation score: 5/5