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Ayme-Gripp syndrome

Go to external page http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Ayme-Gripp syndrome

Synonyms
  • AYGRP
  • cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
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disease_ontology

id

DOID:0111688