Version: 8.0.0Date: Tue Jan 28 2025
Disease
autosomal recessive intellectual developmental disorder 77
- Definition
- An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
- Synonyms
- None
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations