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GTR Home > Conditions/Phenotypes > Microcephaly, short stature, and impaired glucose metabolism 2

Microcephaly, short stature, and impaired glucose metabolism 2

Summary

Microcephaly, short stature, and impaired glucose metabolism-2 (MSSGM2) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, and short stature. Patients develop diabetes in the second or third decade of life, and hypothyroidism and delayed puberty have also been reported (Abdulkarim et al., 2015; Kernohan et al., 2015). For a discussion of genetic heterogeneity of microcephaly, short stature, and impaired glucose metabolism, see MSSGM1 (616033). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CREP, MSSGM2, PPP1R15B
    Summary: protein phosphatase 1 regulatory subunit 15B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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