MTHFS-повязаний синдром затримки розвитку-мікроцефалії-низькорослості-епілепсії
ORPHA:597874· ICD-10 E88.8· MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Визначення(English summary)
A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal