Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)