The main clinical features for WOREE (EIEE28) patients
The main clinical phenotypes were severe syndrome of growth retardation, epileptic seizures, retinopathy and early death. Microcephaly is a prominent finding in these patients.
Abnormality of head or neck:
- Progressive microcephaly
- round hypotonic face
- short neck
Abnormality of the eye:
- Abnormal electroretinogram- Occasional
- Optic atrophy
- Retinal degeneration- Occasional
Abnormality of the musculature:
- Muscular hypotonia of the trunk
- Spasticity
Abnormality of the nervous system:
- Cerebral atrophy- Occasional
- Delayed myelination- Occasional
- Epileptic encephalopathy
- Hyperreflexia
- Hypokinesia
- Hypoplasia of the corpus callosum- Occasional
- Progressive microcephaly
- Rigidity
- Spasticity
- Seizures
Abnormality of the skeletal system:
- Progressive microcephaly
The main clinical features for SCAR12 patients:
Abnormality of head or neck:
- Microcephaly
Abnormality of the eye:
- Gaze-evoked nystagmus
- Optic atrophy
- Retinal degeneration
Abnormality of the musculature:
- Spasticity
Abnormality of the nervous system:
- Babinski sign
- Dysarthria
- Gait ataxia
- Global developmental delay
- Hyporeflexia
- Intellectual disability
- Limb ataxia
- Microcephaly
- Seizures
- Spasticity
Abnormality of the skeletal system:
- Microcephaly
Growth abnormality:
- Growth delay