Summary Literature (0)

DOID:0081099 - neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

Disease Ontology Definition:An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.

Synonyms: autosomal recessive mental retardation 36,

Echinobase Genes :


OMIM:

MIM:615286 - mental retardation, autosomal recessive 36; mrt36

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

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