Phenotype #0000173735
| Individual ID |
00231297 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
01y09m (1 year, 9 months) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y06m |
| Phenotype/Onset |
Acute encephalopathic crisis (HP:0006846) after viral infection with deterioration of consciousness (HP:0004372), vomiting (HP:0002013), involuntary movements (HP:0004305), loss of head control and previously acquired sensomotor skills |
| Phenotype details |
Outcome thereafter: mildly affected (= dystonia (static or improving), able to walk without help), macrocephaly (head circumference > 98th percentile), global developmental delay (HP:0001263) (moderate- severe),dystonia (HP:0001276) & dyskinesia (HP:0100660) (mild), hypotonia (HP:0008947); At age 01y09m: hypotonia (HP:0008947), delayed speech and language development (HP:0000750), starts to walk, able to sit; MRI: delayed myelination, frontotemporal hypoplasia, symmetric widening of Sylvian fissures, hyperintesity of basal ganglia |
| Protein |
- |
| Biochem |
GA(urine): 71 mmol/mol creatinine; 3-OH-GA(urine): 135 mmol/mol creatinine; glutarylcarnitine(blood): normal |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-04-29 12:51:04 +02:00 (CEST) |
| Date last edited |
N/A |
|
