Conditions / Syndrome
neurooculocardiogenitourinary syndrome
info · Syndrome
A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.
Signs and symptoms
- Seizure
- Abnormality of the palmar creases
- Smooth philtrum
- Downturned corners of mouth
- Intellectual disability
- Absent speech
- Global developmental delay
- Prominent nasal bridge
- Bilateral cryptorchidism
- High forehead
Also known as: NOCGUS