Phenotype #0000332803
| Individual ID |
00443467 |
| Associated disease |
NDD |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
JABELS |
| Phenotype details |
see paper; ..., intellectual disability (IQ40-50); 1y-sit, 2y-walk, 3y-speech; scoliosis or kyphoscoliosis; pectus carinatum; generalized tonic clonic seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; no tremor hands, no tremor jaws; normal hand posturing; reduced muscle tone; reduced muscle strength; absence of ankle jerks; abnormal plantar reflexes; myopia; early onset cataract; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
29y (29 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-11-27 15:59:33 +01:00 (CET) |
| Date last edited |
N/A |
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