Metadata | |
---|---|
ID | DOID:0081236 |
Name | 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. https://pubmed.ncbi.nlm.nih.gov/34196201/ |
Xrefs | |
Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |