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Developmental orthopedic disease
Metabolic bone disease

Traduction de «developmental orthopedic disease » (Anglais → Français) :

metabolic bone disease [ developmental orthopedic disease ]

maladie métabolique des os [ maladie métabolique osseuse ]


An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve c

maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B


An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in

lathostérolose


A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

syndrome de microdélétion 1q41q42




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Date index: 2023-05-29
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