Seizures, Scoliosis, and Macrocephaly/Microcephaly Syndrome

Alternative Names

  • SSMS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

616682

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11p11.2

Description

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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616682.1.1SyriaMaleYesYes Global developmental delay; Hypotonia; ...NM_000401.3:c.110C>THomozygousAutosomal, RecessiveNair et al. 2018; El-Bazzal et al. 2019 Proband. Variant als...
616682.1.2SyriaMaleYesYes Global developmental delay; Hypotonia; ...NM_000401.3:c.110C>THomozygousAutosomal, RecessiveEl-Bazzal et al. 2019 Sibling of 616682.1....
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