Х-зчеплена ускладнена дисгенезія мозолистого тіла
ORPHA:1497· ICD-10 Q04.8· X-linked complicated corpus callosum dysgenesis
Визначення(English summary)
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Antenatal, Neonatal