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 )

Relationships
is a type of: autosomal dominant disease syndrome