The clinical features of MRT71 include:
Neurologic abnormalities
- Intellectual disability
- Epilepsy (found in most patients)
- Developmental delay that is usually generalized (affecting all areas of development, including motor, speech, cognitive, and social)
- Behavioral abnormalities (in some patients):
- Hyperactivity
- Attention deficit
- Stereotypical behaviors
- Weak muscle tone (found in 1 patient)
- Brain abnormalities found on magnetic resonance imaging (MRI) or electroencephalogram (EEG)
- MRI: arachnoid granulations (1 patient)
- EEG: electrical activity indicating irritability of the cortex of the brain
Facial dysmorphism (variable, mild; found in some patients)
- Long face
- Large eyes
- Large ears
- Deep-set eyes
- Overbite
Other (found in some patients)
- Abnormally large head
- Prune belly syndrome (condition characterized by lack of abdominal muscles leading to a wrinkly appearance of the abdomen)
- Congenital heart disease (1 patient)
- Small penis (1 patient)
- Undescended testes (1 patient)
- Congenital lack of formation of one kidney (1 patient)