Human genes for Ayme-Gripp syndrome
Ayme-Gripp syndrome [DOID:0111688]
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.
Synonyms: Ayme-Gripp syndrome, AymeGripp syndrome, Ayme-Gripp disease, Ayme-Gripp disorder, Ayme-Gripp syndromes ...