The clinical features of MRT68 include:
Neurologic abnormalities
- Intellectual disability
- Epilepsy (in some patients)
- Developmental
delay that can be global or limited to:
- Cognitive delay
- Speech delay
- Delayed walking
- Spasticity of the lower limbs (in some patients)
- Hypotonia (in some patients)
- Hearing loss (found in some patients)
- Structural
brain abnormalities on MRI (in some patients):
- Cerebellar atrophy or hypoplasia
- White matter abnormalities, including generalized white matter volume loss and/or periventricular leukomalacia
Facial dysmorphisms (variable, mild; found in some patients)
- Deep-set eyes
- Epicanthus
- Smooth philtrum
- Pointed chin
- Synophrys
- Narrow palpebral fissures
- Broad eyebrows
- Broad nasal bridge
- Strabismus
Musculoskeletal abnormalities (found in some patients)
- Pes planus
- Muscle weakness
- Joint hyperlaxity (found in 1 patient)
- Persistent fetal fingertip pads (found in 1 patient)
- Clinodactyly of the fifth finger (found in 1 patient)
Other (found in some patients)
- Low birth weight
- Failure to thrive
- Microcephaly
- Thrombocytosis (found in 1 patient)
- Breath-holding spells (found in 1 patient)