Vertaling van "familial adrenal hypoplasia miniature type " (Engels → Nederlands) :

Familial adrenal hypoplasia miniature type
familiaire bijnierhypoplasie met afwezigheid van luteïniserend hormoon

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
ziekte van Hirschsprung type D-brachydactylie

A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on ch
oculocutaan albinisme type 5