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Severe intellectual disability-progressive spastic diplegia syndrome

Disease definition

Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.


Classification level: Disorder
  • Synonym(s):
    • CTNNB1 syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy
  • ICD-10: G80.1
  • OMIM: 615075
  • UMLS: -
  • MeSH: -
  • GARD: 3505
  • MedDRA: -
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