The clinical features of MRT68 include:
Neurologic abnormalities
- Intellectual disability
- Epilepsy (in some patients)
- Developmental delay that can be generalized (affecting all areas of development, including motor, speech, cognitive, and social) or limited to specific areas of development, such as:
- Cognitive delay
- Speech delay
- Delayed walking
- Spasticity of the lower limbs (in some patients)
- Weak muscle tone (in some patients)
- Hearing loss (found in 1 patient)
- Structural brain abnormalities found on MRI imaging (found in some patients):
- Atrophy of the cerebellum, the structure that is responsible for balance and coordinating movements
- Abnormalities in the white matter (the nerves that link parts of the brain to each other and to the spinal cord)
Facial dysmorphisms (variable, mild; found in some patients)
- Deep-set eyes
- Epicanthus
- Smooth philtrum (philtrum is the vertical groove between the nose and the upper lip)
- Pointed chin
- Unibrow
- Narrow eyes
- Broad eyebrows
- Broad nasal bridge
Musculoskeletal abnormalities (found in some patients)
- Flatfoot
- Muscle weakness
- Joint hypermobility (found in 1 patient)
- Persistent fetal fingertip pads (found in 1 patient)
- Bending of the fifth finger (found in 1 patient)
Other (found in some patients)
- Low birth weight
- Poor growth
- Microcephaly (abnormally small head)
- Breath-holding spells (found in 1 patient)
- Increased number of platelets