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Salt-and-pepper syndrome

Disease definition

A rare, genetic, congenital disorder of glycosylation with neurological involvement disorder characterized by the association of severe intellectual disability with altered dermal pigmentation (scattered hyper-and hypo-pigmented macules ranging from 1 to 5 mm on the face, trunk and extremities). Additional variable manifestations include scoliosis, choreoathetosis, seizures, spasticity and nonspecific abnormal electrocardiogram. Reported facial dysmorphism includes microcephaly, midface hypoplasia, and prominent lower face. Radiographic examination shows decreased bone mineralization.

ORPHA:370938

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 609056
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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