Percentage | Cases | |
---|---|---|
Gender | ||
Male | 38.5% | 5/13 |
Female | 61.5% | 8/13 |
Indifferent | 0% | 0/13 |
Unknown | 0% | 0/13 |
General | ||
Birth Length abnormalities | 0% | 0/1 |
Birth Weight abnormalities | 0% | 0/1 |
Birth Head circumference abnormalities | 0% | 0/0 |
Current Height abnormalities | 0% | 0/0 |
Current Weight abnormalities | 0% | 0/0 |
Current Head circumference abnormalities | 0% | 0/0 |
Neurology | ||
Neurological abnormalities | 100.0% | 13/13 |
Global developmental delay | 30.8% | 4/13 |
Hypsarrhythmia | 30.8% | 4/13 |
Optic atrophy | 30.8% | 4/13 |
Epileptic spasms | 23.1% | 3/13 |
Generalized tonic-clonic seizures | 23.1% | 3/13 |
Infantile axial hypotonia | 23.1% | 3/13 |
Atonic seizures | 15.4% | 2/13 |
Cerebral atrophy | 15.4% | 2/13 |
Focal seizures | 15.4% | 2/13 |
Generalized hypotonia | 15.4% | 2/13 |
Hypokinesia | 15.4% | 2/13 |
Spastic tetraparesis | 15.4% | 2/13 |
Abnormality of the corpus callosum | 7.7% | 1/13 |
Brisk reflexes | 7.7% | 1/13 |
Cryptorchidism | 7.7% | 1/13 |
Focal tonic seizures | 7.7% | 1/13 |
Generalized tonic seizures | 7.7% | 1/13 |
Generalized clonic seizures | 7.7% | 1/13 |
Generalized neonatal hypotonia | 7.7% | 1/13 |
Hemihypsarrhythmia | 7.7% | 1/13 |
Infantile spasms | 7.7% | 1/13 |
Intellectual disability, severe | 7.7% | 1/13 |
Language impairment | 7.7% | 1/13 |
Limb hypertonia | 7.7% | 1/13 |
Limb dystonia | 7.7% | 1/13 |
Lower limb spasticity | 7.7% | 1/13 |
Poor eye contact | 7.7% | 1/13 |
Psychomotor deterioration | 7.7% | 1/13 |
Upper limb spasticity | 7.7% | 1/13 |
Behavioral problems | 50.0% | 1/2 |
Delayed speech and language development | 50.0% | 1/2 |
Hypoplasia of the corpus callosum | 50.0% | 1/2 |
Poor eye contact | 50.0% | 1/2 |
Brain abnormality | 88.9% | 8/9 |
Hypoplasia of the corpus callosum | 33.3% | 3/9 |
Abnormality of the corpus callosum | 22.2% | 2/9 |
Global brain atrophy | 22.2% | 2/9 |
Abnormality of brainstem morphology | 11.1% | 1/9 |
Cerebellar vermis hypoplasia | 11.1% | 1/9 |
Delayed myelination | 11.1% | 1/9 |
Delayed CNS myelination | 11.1% | 1/9 |
Dysplastic corpus callosum | 11.1% | 1/9 |
Frontotemporal cerebral atrophy | 11.1% | 1/9 |
Microcephaly | 11.1% | 1/9 |
Optic atrophy | 11.1% | 1/9 |
Polymicrogyria | 11.1% | 1/9 |
Facial abnormalities | ||
Abnormality of the eye | 80.0% | 4/5 |
Poor eye contact | 80.0% | 4/5 |
Visual and hearing impairments | ||
Abnormal vision | 50.0% | 1/2 |
Poor eye contact | 50.0% | 1/2 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 1/1 |
Kyphoscoliosis | 100.0% | 1/1 |