autosomal recessive intellectual developmental disorder 41

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Echinobase

Summary

Literature (0)

DOID:0081206 - autosomal recessive intellectual developmental disorder 41

Disease Ontology Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.

Synonyms:

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

: kptn

OMIM:

MIM:615637 - mental retardation, autosomal recessive 41; mrt41

MIM:615637 - mental retardation, autosomal recessive 41; mrt41

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

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

Parent(s): autosomal recessive non-syndromic intellectual disability (is_a)