Vertaling van "Cri-du-chat syndrome " (Engels → Nederlands) :

Cri-du-chat syndrome
'cri du chat'-syndroom

5p-syndrome | chromosome 5 short arm deletion | cri du chat syndrome | Lejeune syndrome
cri-du-chat-syndroom | syndroom van Lejeune

Cri du chat syndrome
partiële monosomie 5p

A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly,
ring 5

LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subun
laryngo-onycho-cutaan syndroom