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Article

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

American journal of medical genetics. Part A - 1 Nov 2012

Kariminejad Ariana, Hennekam Raoul C M

Abstract excerpt

We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and duplicated halluces. Their facial morphology was unusual: thick eyebrows, ptosis, full eyelashes, long palpebral fissures,...

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PMID: 22991300
DOI: 10.1002/ajmg.a.35627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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