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TERMINOLOGIE

Natural Resources Canada | NRCan [Abbr.]
Ressources naturelles Canada | RNCan [Abbr.]

This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Ele
syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope

This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and tw
syndrome de petite taille-valvulopathie cardiaque-dysmorphie

This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two mater
syndrome de maladie de Hirschsprung-brachydactylie type D

Natural Resources Canada (NRCan) 10th Floor, Area A -7
Natural Resources Canada (NRCan) 10th Floor, Area A-7