Conditions / Syndrome
ZTTK syndrome
info · Syndrome
A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.
Signs and symptoms
- Short nose
- Relative macrocephaly
- Delayed ability to crawl
- Sparse eyebrow
- Intestinal atresia
- Prominent forehead
- Delayed ability to sit
- Intellectual disability
- Feeding difficulties
- Global developmental delay
Also known as: ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; Zhu-Tokita-Takenouchi-Kim syndrome