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Ayme gripp syndrome in an Indian patient.

American journal of medical genetics. Part A - 1 Apr 2021

Chaudhry Chakshu, Kaur Parminder, Srivastava Priyanka, Kaur Anupriya

Abstract excerpt

Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the MAF (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature...

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Asian People
Cataract
Facies
Growth Disorders
Hearing Loss, Sensorineural
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Neurodevelopmental Disorders

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PMID: 33528093
DOI: 10.1002/ajmg.a.62053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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