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Article

Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia.

JPMA. The Journal of the Pakistan Medical Association - 1 Oct 2023

Chand Prem, Sulaiman Asna, Kirmani Salman

Abstract excerpt

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164*),...

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PMID: 37876076
DOI: 10.47391/JPMA.6733

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Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia.PMID 37876076Read ↗

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.Semantic proximity Read ↗

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