MYCBP2-related developmental delay with corpus callosum defects
MONDO:1060117Mondo
Findings
No curated finding names MYCBP2-related developmental delay with corpus callosum defects yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features.
Definition from the Mondo Disease Ontology (MONDO:1060117), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: MYCBP2-related developmental delay with corpus callosum defects
- Also called
- MDCD