TMTC3-Related Syndrome

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Gene Map Locus



TMTC3-related syndrome is an autosomal recessive disorder resulting in intellectual disability, psychomotor retardation and absent speech. Affected individuals also exhibit microcephaly, muscular hypotonia and seizures. Interestingly, while its allelic disorder, 'Lissencephaly 8' (OMIM 617255) has been associated with neuronal migration defects such as cobblestone lissencephaly or periventricular hypertopia, TMTC3-related syndrome does not present with these anomalies. 


Epidemiology in the Arab World

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Other Reports


Hana et al. 2020, reported on two siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211C>T (p.R71C) in the TMTC3 gene in both siblings. 

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