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Синдром мікроделеції 20q11.2

ORPHA:444051· ICD-10 Q93.5· 20q11.2 microdeletion syndrome

Визначення(English summary)

A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.

Поширеність
<1 / 1 000 000
Успадкування
Not applicable
Вік початку
Antenatal, Neonatal