FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ID (Ontology) DOID:0070346 (Human Disease)
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.
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 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies       1
 for disease ribbon | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies       1
 model of | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies       1
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       |__neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  1 rec.
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MIM:618571