Version: 8.0.0
Date: Tue Jan 28 2025
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
DOID:0070346
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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Sources of Associations

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