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Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities

Summary

Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: L2, NEDSMBA, SGT2, hSGT2, hSgt2p, PPFIBP1
    Summary: PPFIA binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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