Conditions / Syndrome
Stolerman neurodevelopmental syndrome
info ยท Syndrome
A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_materi
A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13.
Signs and symptoms
- Tethered cord
- Shoulder dystocia
- Obstipation
- Laryngomalacia
- Intoeing
- Proportionate tall stature
- Macule
- Fused cervical vertebrae
- Long eyelashes
- Macrotia