| Gender |
|
|
| Male |
52.9% |
9/17 |
| Female |
47.1% |
8/17 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/23 |
| Birth Weight abnormalities |
0% |
0/23 |
| Birth Head circumference abnormalities |
0% |
0/23 |
| Current Height abnormalities |
0% |
0/23 |
| Current Weight abnormalities |
0% |
0/23 |
| Current Head circumference abnormalities |
0% |
0/23 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
23/23 |
| Seizure |
65.2% |
15/23 |
| obsolete Poor motor coordination |
39.1% |
9/23 |
| Cognitive impairment |
34.8% |
8/23 |
| Ataxia |
26.1% |
6/23 |
| Generalized myoclonic seizure |
21.7% |
5/23 |
| Frequent falls |
17.4% |
4/23 |
| Inability to walk |
13.0% |
3/23 |
| Loss of ability to walk in first decade |
13.0% |
3/23 |
| Memory impairment |
13.0% |
3/23 |
| Tremor |
13.0% |
3/23 |
| Abnormal pyramidal sign |
8.7% |
2/23 |
| Autism |
8.7% |
2/23 |
| Gait ataxia |
8.7% |
2/23 |
| Muscle weakness |
8.7% |
2/23 |
| Myoclonus |
8.7% |
2/23 |
| Neck muscle weakness |
8.7% |
2/23 |
| Bilateral tonic-clonic seizure |
4.3% |
1/23 |
| Dysmetria |
4.3% |
1/23 |
| Dystonia |
4.3% |
1/23 |
| Febrile seizure (within the age range of 3 months to 6 years) |
4.3% |
1/23 |
| Gait disturbance |
4.3% |
1/23 |
| Generalized non-motor (absence) seizure |
4.3% |
1/23 |
| Generalized hypotonia |
4.3% |
1/23 |
| Loss of speech |
4.3% |
1/23 |
| Lower limb spasticity |
4.3% |
1/23 |
| Progressive cerebellar ataxia |
4.3% |
1/23 |
| Progressive psychomotor deterioration |
4.3% |
1/23 |
| Psychomotor deterioration |
4.3% |
1/23 |
| Unsteady gait |
4.3% |
1/23 |
| Webbed neck |
4.3% |
1/23 |
| Behavioral problems |
100.0% |
8/8 |
| Reduced eye contact |
25.0% |
2/8 |
| Short attention span |
25.0% |
2/8 |
| Agitation |
12.5% |
1/8 |
| Clumsiness |
12.5% |
1/8 |
| Drooling |
12.5% |
1/8 |
| Frequent falls |
12.5% |
1/8 |
| Hyperactivity |
12.5% |
1/8 |
| Inappropriate crying |
12.5% |
1/8 |
| Inappropriate laughter |
12.5% |
1/8 |
| Paroxysmal bursts of laughter |
12.5% |
1/8 |
| Brain abnormality |
100.0% |
15/15 |
| Cerebellar atrophy |
40.0% |
6/15 |
| EEG abnormality |
40.0% |
6/15 |
| Cerebral atrophy |
20.0% |
3/15 |
| Microcephaly |
20.0% |
3/15 |
| Abnormal cerebral white matter morphology |
13.3% |
2/15 |
| Multifocal epileptiform discharges |
13.3% |
2/15 |
| Abnormal cerebral ventricle morphology |
6.7% |
1/15 |
| Abnormality of the internal capsule |
6.7% |
1/15 |
| Abnormal subarachnoid space morphology |
6.7% |
1/15 |
| Cerebral hypomyelination |
6.7% |
1/15 |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
6.7% |
1/15 |
| Diffuse cerebellar atrophy |
6.7% |
1/15 |
| Diffuse cerebral atrophy |
6.7% |
1/15 |
| Dysmetria |
6.7% |
1/15 |
| EEG with generalized slow activity |
6.7% |
1/15 |
| EEG with irregular generalized spike and wave complexes |
6.7% |
1/15 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
6.7% |
1/15 |
| Progressive cerebellar ataxia |
6.7% |
1/15 |
| Ventriculomegaly |
6.7% |
1/15 |
| Facial abnormalities |
|
|
| Abnormality of the eye |
100.0% |
4/4 |
| Nystagmus |
50.0% |
2/4 |
| Abnormality of eye movement |
25.0% |
1/4 |
| Bull's eye maculopathy |
25.0% |
1/4 |
| Diffuse optic disc pallor |
25.0% |
1/4 |
| Macular exudate |
25.0% |
1/4 |
| Optic disc pallor |
25.0% |
1/4 |
| Retinal pigment epithelial mottling |
25.0% |
1/4 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
50.0% |
1/2 |
| Progressive hearing impairment |
50.0% |
1/2 |
| Abnormal vision |
95.2% |
20/21 |
| Visual loss |
52.4% |
11/21 |
| Optic disc pallor |
19.0% |
4/21 |
| Blindness |
14.3% |
3/21 |
| Progressive visual loss |
9.5% |
2/21 |
| Visual impairment |
9.5% |
2/21 |
| Abnormality of eye movement |
4.8% |
1/21 |
| Abnormal electroretinogram |
4.8% |
1/21 |
| Nystagmus |
4.8% |
1/21 |
| Optic atrophy |
4.8% |
1/21 |
| Patchy atrophy of the retinal pigment epithelium |
4.8% |
1/21 |
| Progressive night blindness |
4.8% |
1/21 |
| Retinal dystrophy |
4.8% |
1/21 |
| Retinopathy |
4.8% |
1/21 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
100.0% |
1/1 |
| Feeding difficulties |
100.0% |
1/1 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
3/3 |
| Abnormal muscle fiber morphology |
33.3% |
1/3 |
| Bone cyst |
33.3% |
1/3 |
| Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
33.3% |
1/3 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
2/2 |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
50.0% |
1/2 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
50.0% |
1/2 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
100.0% |
1/1 |
| Abnormal circulating enzyme concentration or activity |
100.0% |
1/1 |
| Abnormality of the immune system |
100.0% |
1/1 |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
100.0% |
1/1 |