Ayme-Gripp syndrome (DOID:0111688)
Alliance: disease page
Synonyms: AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
Alt IDs: OMIM:601088, MESH:C563390, UMLS_CUI:C1832812
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.