Phenotype #0000171428

Individual ID	00226304
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y04m
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	Didn't open hands
Phenotype details	Disease course: At age 01y02m: began to sit; At age 02y: began to stand; At age 03y06m: began to walk independantly; At age 05y: diagnosis of arachnoid cyst with subsequent drainage into basal cisterns; At age 06y: placement of ventriculo-peritoneal valve (one year later removal due to infection); At age 15y: severe dystonic tetraparesis (HP:0002273), generalized choreoathetoid movements, head circumference + 3 SD, able to stand and walk without help, visits normal school with satisfactory achievements; CT(age 05y): frontotemporal arachnoid cyst; MRI(age 15y): big frontotemporal arachnoid cyst on right side and smaller one on left side in temporo-silvian region
Protein	-
Biochem	GA(urine): 3592 mg/g creatinine; carnitine(serum): 2.8 µg/ml
Enzyme/Activity	undetectable (fibroblasts)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-03-07 10:30:32 +01:00 (CET)
Date last edited	2019-04-30 15:36:58 +02:00 (CEST)

Global Variome shared LOVD