Цереброокулоназальний синдром
ORPHA:66625· ICD-10 Q87.0· Cerebrooculonasal syndrome
Визначення(English summary)
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Neonatal