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Marfanoid habitus - intellectual disability, autosomal recessive

ORPHA2463
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS
  • C0268364
MeSH -
MedDRA -

Summary

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.


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