| Term Name: | Ayme-Gripp syndrome |
|---|---|
| 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 ) |