The clinical features of MRT71 include:
Neurologic abnormalities
- Intellectual disability
- Global developmental delay
- Epilepsy (usually well-controlled on medication)
- Behavioral abnormalities:
- Hyperactivity
- Attention deficit
- Stereotypical behaviors (1 patient)
- Hypotonia (1 patient)
- Arachnoid granulations on MRI (1 patient)
- EEG showing generalized slowing and episodes of generalized delta discharges, which may indicate underlying cortical irritability (1 patient)
Facial dysmorphism (variable, mild; found in some patients)
- Long face
- Large eyes
- Large ears
- Deep-set eyes
- Overbite
Other (found in some patients)
- Macrocephaly
- Prune belly syndrome
- Congenital heart disease in the form of VSD and thick aortic valve (1 patient)
- Genitourinary malformations:
- Small penis (1 patient)
- Undescended testes (1 patient)
- Unilateral renal agenesis (1 patient)