autosomal recessive intellectual developmental disorder 40

Summary

DOID:0081205 - autosomal recessive intellectual developmental disorder 40

Disease Ontology Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: taf2

MIM:

MIM:615599 - NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY; NEDFCF

MIM:615599 - NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY; NEDFCF

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive intellectual developmental disorder (is_a)