| Metadata | |
|---|---|
| ID | DOID:0111688 |
| Name | Ayme-Gripp syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8834052, https://www.ncbi.nlm.nih.gov/pubmed/25865493 |
| Xrefs | |
| Synonyms |
AYGRP [EXACT] cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |