Term Name: | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0070346] ( DOID:0070346 ) |