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Marfanoid habitus-autosomal recessive intellectual disability syndrome

Disease definition

Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.

ORPHA:2463

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q87.8
  • OMIM: 248770
  • UMLS: C0268364  C1855347
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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