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Article

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.

American journal of medical genetics. Part A - 1 Jul 2014

Prasun Pankaj, Hankerd Michael, Kristofice Melissa, Scussel Lindsey, Sivaswamy Lalitha, Ebrahim Salah

Abstract excerpt

Homozygous or compound heterozygous microdeletion of 15q13.3 region is a rare but clinically recognizable syndrome manifested by profound intellectual disability, muscular hypotonia, intractable seizures, and visual impairment. We identified a compound heterozygous 15q13.3 microdeletion in a 23-m...

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Share to Chromosome Deletion
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Developmental Disabilities

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Source

Identifiers

PMID: 24700535
DOI: 10.1002/ajmg.a.36535

Genes

CHRNA7
TRPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24700535-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.PMID 24700535Read ↗

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