| Metadata | |
|---|---|
| ID | DOID:0070346 |
| Name | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| Definition | A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. https://www.ncbi.nlm.nih.gov/pubmed/618571 |
| Xrefs | |
| Parent Relationships |
is_a syndrome |