Phenotype #0000307136
| Individual ID |
00415339 |
| Associated disease |
- |
| Phenotype details |
speech problems, lack of concentration, walking disability at age of 4 years leading to quadriplegia; spontaneous laughing and crying because of hidden seizure, clumsiness, psychomotor delay, and vision deterioration at age of 5 years which could be the consequence of macular dystrophy; brain magnetic resonance imaging: electroencephalogram: bilateral white matter signal change with preservation of white matter; no available histopathological studies or skin biopsy; organic acids in urine using gas chromatography-mass spectrometry (GCMS): a normal pattern with no evidence for metabolic disorders; no evidence for tyrosinemia, glutaric aciduria, methylmalonic aciduria, Canavan disease, propionic aciduria, isovaleric aciduria, and other organic aciduria; neonatal screening, clinical chemistry, and metabolism assays - norm |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
late infantile neuronal ceroid lipofuscinosis |
| Age/Examination |
5y (5 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-12 13:25:11 +02:00 (CEST) |
| Date last edited |
N/A |
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