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Синдром мікроделеції 1q21.1

ORPHA:250989· ICD-10 Q93.5· 1q21.1 microdeletion syndrome

Визначення(English summary)

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

Поширеність
Unknown
Успадкування
Autosomal dominant, Not applicable
Вік початку
Infancy, Neonatal