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GTR Home > Conditions/Phenotypes > Microcephaly, epilepsy, and diabetes syndrome 2

Microcephaly, epilepsy, and diabetes syndrome 2

Summary

MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes (De Franco et al., 2020). For a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 (614231). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: FinGER5, MEDS2, SB140, SMAP-5, SMAP5, YIP1A, YIPFalpha1A, YIPF5
    Summary: Yip1 domain family member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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