| Metadata | |
|---|---|
| ID | DOID:0081387 |
| Name | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| Definition | An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/37054711/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
existence starts during some Infantile onset existence starts during some Childhood onset |