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DOID:0111688 - Ayme-Gripp syndrome
Disease Ontology Definition:A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
Synonyms: AYGRP, cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation,
Xenbase Genes
:
maf
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)