Орофаціодигітальний синдром, тип 6
ORPHA:2754· ICD-10 Q04.3· Orofaciodigital syndrome type 6
Визначення(English summary)
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, X-linked recessive
- Вік початку
- Infancy, Neonatal