Синдром де Барсі, повязаний з ALDH18A1
ORPHA:35664· ICD-10 Q87.8· ALDH18A1-related De Barsy syndrome
Визначення(English summary)
A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, Not applicable
- Вік початку
- Infancy, Neonatal