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Article

TBCK-related intellectual disability syndrome: Case study of two patients.

American journal of medical genetics. Part A - 1 Feb 2017

Mandel Hanna, Khayat Morad, Chervinsky Elana, Elpeleg Orly, Shalev Stavit

Abstract excerpt

There is a significant level of genetic heterogeneity underlying the phenotype of nonspecific hypotonia with severe intellectual disability. Exome sequencing has proven to be a powerful tool for identifying the underlying molecular basis of such nonspecific, abnormal neurological phenotypes. Mutations in the TBCK gene have been reported associated with very poor, if any, psychomotor development, poor speech, and...

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Source

Identifiers

PMID: 27748029
DOI: 10.1002/ajmg.a.38019

Genes

TBCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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