Синдром кільцевої хромосоми 4
ORPHA:1447· ICD-10 Q93.2· Ring chromosome 4 syndrome
Визначення(English summary)
Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy, Neonatal