Phenotype #0000157483
| Individual ID |
00208874 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y00m07d |
| Phenotype/Onset |
- |
| Phenotype details |
Head circumference at birth: 90th percentile; At age 05m: truncal hypotonia (HP:0008936) after mild febrile illness associated with otitis media (HP:0000371) (managed at home); At age 02y02m: hospitalization because of gastroenteritis with dehydration and intermittent dystonic posturing; At age 03y: put into foster care, where significant developmental strides were made (before the child was neglected and made only minimla progress); At 07y: poor muscle strength, minimal dystonia (HP:0001276), severe gross motor delay (HP:0002194) (mostly wheelchair bound), severe expressive language impairment and articulation difficulties, neuropsychologic tests: average executive function & visual memory, significant impairment on all other measures (for more details see full text) ; CT(at 02y02m): bilateral small anterior temporal arachnoid cysts, symmetrically enlarged Sylvian fissures, moderately dilated third and lateral ventricles, generalised abnormal low density of white matter throughout supratentorial cerebral hemispheres and low density in putamen (bilateral) |
| Protein |
- |
| Biochem |
- |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-12-19 08:58:34 +01:00 (CET) |
| Date last edited |
N/A |
|
