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GTR Home > Conditions/Phenotypes > Seizures-scoliosis-macrocephaly syndrome

Seizures-scoliosis-macrocephaly syndrome

Synonyms
SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME; Seizures, scoliosis, and macrocephaly syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SOTV, SSMS, EXT2
    Summary: exostosin glycosyltransferase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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