Phenotype #0000155448

Individual ID	00207659
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	Cerebral palsy
Age/Examination	01y02m (1 year, 2 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Medical history: Neonatal jaundice (HP:0006579) at age 02d (phototherapy for 5 days), "floppy infant"(HP: 0001319), delayed gross and fine motor development (HP:0002194, HP:0010862) (head control at age 08m, unsupported sitting at age 10m), At age 11m: Encephalopathy (HP:0006846) and seizures (HP:0001250) after gastroenteritis with subsequent loss of some developm. skills (HP:0002376), Outcome thereafter: Severe spasticity (HP:0001257) (non-corresponding to Baclofen and physiotherapy; Symptoms at examination (Age 01y02m): Severe dystonia (HP:0001276), spastic quadriplegia (HP:0002510), failure to thrive (HP:0001531); MRI: Abnormal high signal intensity in basal ganglia, widened Sylvian fissure
Protein	-
Biochem	findings: 3-OH-GA(urine): elevated; glutarylcarnitine: high
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-11-27 13:09:35 +01:00 (CET)
Date last edited	N/A