Синдром інтелектуальної недостатності-судом-макроцефалії-ожиріння
ORPHA:369950· ICD-10 Q87.8· Intellectual disability-seizures-macrocephaly-obesity syndrome
Визначення(English summary)
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal