Version: 8.0.0
Date: Tue Jan 28 2025
Ayme-Gripp syndrome
DOID:0111688
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • AYGRP
  • cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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