TMEM94-асоційований синдром вродженої вади серця-дизморфізму обличчя-затримки розвитку
ORPHA:562569· ICD-10 Q87.8· TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Визначення(English summary)
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal