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Vertaling van "Set sets " (Engels → Frans) :

TERMINOLOGIE
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous

trisomie 9 en mosaïque


An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.

syndrome de paralysie faciale congénitale héréditaire-surdité variable


A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears).

monosomie non distale 12q




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Date index: 2024-04-29
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