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Article

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

American journal of medical genetics. Part A - 1 Oct 2016

Graham John M, Zadeh Neda, Kelley Melissa, Tan Ee Shien, Liew Wendy, Tan Victoria, Deardorff Matthew A, Wilson Golder N, Sagi-Dain Lena, Shalev Stavit A

Abstract excerpt

Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Tandem Pore Domain

Source

Identifiers

PMID: 27151206
DOI: 10.1002/ajmg.a.37740

Genes

KCNK9

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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