Term Name: | Ayme-Gripp syndrome |
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Synonyms: | AYGRP, cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation |
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. |
Ontology: | Human Disease [DOID:0111688] ( DOID:0111688 ) |