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Синдром мікродуплікації 10q22.3q23.3

ORPHA:276422· ICD-10 Q92.3· 10q22.3q23.3 microduplication syndrome

Визначення(English summary)

A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.

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