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Greig hypertelorism

Traduction de «Ocular hypertelorism » (Anglais → Français) :

A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, a

syndrome autosomique récessif de leucoencéphalopathie-infarctus cérébraux-rétinite pigmentaire


A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downsla

trisomie 15 en mosaïque


A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax

syndrome cranio-facio-fronto-digital






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Date index: 2024-06-10
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