Phenotype #0000233434
| Individual ID |
00308011 |
| Associated disease |
? |
| Diagnosis/Initial |
severe syndromic intellectual disability |
| Diagnosis/Definite |
NEDESBA |
| Phenotype details |
see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy with relative sparing of the basal ganglia, cortical atrophy preceded the cerebellar atrophy, no diffusion restriction has been obvious on sequential scans, no suggestion of iron deposition in the brainstem/basal ganglia, spastic quadraparesis with minimal spontaneous movement of limbs and hyperreflexia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0d |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-08-25 13:30:59 +02:00 (CEST) |
| Date last edited |
N/A |
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