Conditions / Syndrome
Ayme-Gripp syndrome
info · Syndrome
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
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.
Signs and symptoms
- Hearing impairment
- Intellectual disability
- Midface retrusion
- Developmental cataract
- Short nose
- Brachydactyly
- Seizure
- Long philtrum
- Depressed nasal bridge
- High forehead
Also known as: AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation