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Article

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

American journal of human genetics - 6 Nov 2014

Buchert Rebecca, Tawamie Hasan, Smith Christopher, Uebe Steffen, Innes A Micheil, Al Hallak Bassam, Ekici Arif B, Sticht Heinrich, Schwarze Bernd, Lamont Ryan E, Parboosingh Jillian S, Bernier Francois P, Abou Jamra Rami

Abstract excerpt

Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and seizures. Mutations in PEX7, GNPAT, and AGPS, all involved in the plasmalogen-biosynthesis pathway, have been described in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25439727
DOI: 10.1016/j.ajhg.2014.10.003
PMCID: PMC4225589

Genes

FAR1
AGPS
GNPAT
PEX7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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