Phenotype #0000167531
| Individual ID |
00218968 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y00m04d |
| Phenotype/Onset |
- |
| Phenotype details |
Infancy: slightly delayed motor development (HP:0001270); at age 07m: trembling during anxiety and when waking up; at age 02y02m: PDI=89, average level of development, speaks only single words; at age 05y: normal development (kindergarten); EEG(age 07m): localized changes (in observation) |
| Protein |
- |
| Biochem |
- |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-02-04 15:18:35 +01:00 (CET) |
| Date last edited |
N/A |
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