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GTR Home > Conditions/Phenotypes > Microcephaly, short stature, and impaired glucose metabolism 1

Microcephaly, short stature, and impaired glucose metabolism 1

Summary

Microcephaly, short stature, and impaired glucose metabolism-1 (MSSGM1) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, short stature, and early-onset diabetes or abnormalities of glucose homeostasis (Igoillo-Esteve et al., 2013; Gillis et al., 2014). Genetic Heterogeneity of Microcephaly, Short Stature, and Impaired Glucose Metabolism MSSGM2 (616817) is caused by mutation in the PPP1R15B gene (613257) on chromosome 1q32. Also see Wolcott-Rallison syndrome (226980), which is characterized by multiple epiphyseal dysplasia, microcephaly, short stature, and early-onset diabetes mellitus and is caused by mutation in the EIF2AK3 gene (604032) on chromosome 2p11. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-88, MSSGM, MSSGM1, RG9MTD2, TRM10, TRMT10A
    Summary: tRNA methyltransferase 10A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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