OBO ID: DOID:0111688
Term Name: Ayme-Gripp syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111688 )
Relationships
is a type of:
OTHER Ayme-Gripp syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAF Ayme-Gripp syndrome 601088
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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