Search Ontology:
Human Disease

neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies

Term ID
DOID:0070346
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. https://www.ncbi.nlm.nih.gov/pubmed/618571
References
Ontology
Human Disease   ( DOID:0070346 )
Relationships
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Genes Involved
Zebrafish Models