Phenotype #0000166812

Individual ID	00218371
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y07m
Diagnosis/Initial	-
Age/Examination	00y09m (9 months)
Diagnosis/Definite	-
Age/Diagnosis	00y08m
Phenotype/Onset	Fever (HP:0001945), seizures (HP:0001250), ophisthotonus (HP:0002179), feeding problems (HP:0008872)
Phenotype details	Neonatal history: born at 35week gestation, normal early development; At age 07m: developmental delay (HP:0001263), fever (HP:0001945) with relatively sudden onset of dystonia (HP:0001276), seizures (HP:0001250), ophisthotonus (HP:0002179) and feeding problems (HP:0008872); Disease course: severe impairment, increased truncal tone (HP:0001276), increased limb tone, G-tube feeding (HP:0011471), placement in chronic care institution; At age 01y04m: fever and sudden death; Autopsy: acute glottitis and pneumonitis; CT(age 07m): hypointensity of caudate and putamen, widening of Sylvian fissures
Protein	-
Biochem	GA(urine):58 µmol/mmol creatinine; 3-OH-GA(urine): small amount
Enzyme/Activity	Residual activity: 4% (lymphocytes)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-24 11:48:01 +01:00 (CET)
Date last edited	2019-02-13 14:04:01 +01:00 (CET)