Phenotype #0000157493

Individual ID	00208884
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	At birth: macrocephaly (HP:0004488) (99,9th percentile); At age 03m: brief seizure (HP:0001250); At age 04m: developmental delay (HP:0001263), mild hypotonia (HP:0008947), head bobbing; At age 08m: hospitalization because of vomiting (HP:0002013), diarrhea (HP:0002014), fever (HP:0001945) and severe dehydration (HP:0001944) progressing first to comatose state and ultimately to death; Autopsy: haemorrhagic infarction as consequence of venous sinus thrombosis caused by sepsis (HP:0100806) and dehydration; CT(age 06m): slightly enlarged ventricles, temporal fossa fluid collections, mild widening of frontal sulci;CT(age08m): haemorrhage in right temporoparietal region
Protein	-
Biochem	GA(urine):33-450µmol/mmol creatinine; 3-OH-GA(urine): small amount
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-12-19 16:17:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD