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GTR Home > Conditions/Phenotypes > Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Synonyms
Seizures, cortical blindness, and microcephaly syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by Ercan-Sencicek et al., 2015). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1, DIAPH1
    Summary: diaphanous related formin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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