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ORPHA:3103· ICD-10 Q73.8· Roberts syndrome

Визначення(English summary)

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Antenatal, Neonatal