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Article

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

European journal of medical genetics - 1 Oct 2014

Kaasinen Eevi, Rahikkala Elisa, Koivunen Peppi, Miettinen Sirpa, Wamelink Mirjam M C, Aavikko Mervi, Palin Kimmo, Myllyharju Johanna, Moilanen Jukka S, Pajunen Leila, Karhu Auli, Aaltonen Lauri A

Abstract excerpt

We identified six patients presenting with a strikingly similar clinical phenotype of profound syndromic intellectual disability of unknown etiology. All patients lived in the same village. Extensive genealogical work revealed that the healthy parents of the patients were all distantly related to a common ancestor from the 17th century, suggesting autosomal recessive inheritance. In addition to intellectual...

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Identifiers

PMID: 25078763
DOI: 10.1016/j.ejmg.2014.07.002

Genes

TKT
USP4

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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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