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Fibroblastic disorder
Fibroblastic disorders
Other fibroblastic disorders

Traduction de «Other fibroblastic disorders » (Anglais → Néerlandais) :

Other fibroblastic disorders

overige gespecificeerde fibroblastaire aandoeningen






A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormali

X-gebonden colobomateuze microftalmie, microcefalie, intellectuele achterstand, kleine gestalte-syndroom


A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and

erfelijke gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren


Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric d

spinocerebellaire ataxie type 8




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Date index: 2021-11-11
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