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DOID:0070346 - neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Disease Ontology 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:
Xenbase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)