Ayme-Gripp syndrome

Term ID

DOID:0111688

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. (2)

References

• MESH:C563390
• MIM:601088
• UMLS_CUI:C1832812

Ontology

Human Disease   ( DOID:0111688 )