Phenotype #0000171217
| Individual ID |
00226110 |
| Associated disease |
- |
| Phenotype details |
neuronal ceroid lipofuscinosis, progressive tetraparesis, cognitive and motor decline; until 2.5y normal developmental milestones; 2.5y-language; 3.5y-motor regression, frequent falls, loss of manual skills and language abilities;10y-moderate intellectual disability, severe hypopostural spastic-dystonic tetraparesis associated with ballistic-choreic movements, severe dysarthria, drooling, reduced visual acuity both eyes, optic disks normal, electroretinogram normal; no epileptic seizures, awake EEG examination normal background activity with multifocal spike-and-wave complexes on posterior regions bilaterally and marked photoparoxysmal response, during sleep irregular pseudoperiodic polyspike-and-wave complexes; occasional myoclonic jerks limbs; MRI brain 8y/10-unremarkable; electron microscopy skin biopsy enlarged lysosomes containing storage material, including curved tubular aggregates |
| Diagnosis/Initial |
neuronal ceroid lipofuscinosis |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
NEDAMSS |
| Age/Examination |
10y (10 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Enza Maria Valente |
| Database submission license |
No license selected |
| Created by |
Enza Maria Valente |
| Date created |
2019-02-26 17:46:21 +01:00 (CET) |
| Date last edited |
2020-07-06 13:30:05 +02:00 (CEST) |
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