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neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Summary
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0070346
- Mondo Disease Ontology
- OMIM
