Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000155213 Individual ID 00207435 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y07m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y12m Phenotype/Onset - Phenotype details Outcome at age 02y05m: Severely affected (bedridden, tube feeding required); Symtpoms: macrocephaly (HP:0000256), dystonia (HP:0001276), hypotonia (HP:0001252), progressive neurological regression, hypotonia and rigidity after gastroenteritis (at 07m), seizures associated with pneumonia (at 08m); Neuroimaging (01m): subependymal pseudocysts, temporal lobe hypoplasia Protein - Biochem GA(urine): high, glutarylcarnitine(dried blood spot): not determined Enzyme/Activity ≤ 5% (cultured fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-22 11:50:44 +01:00 (CET) Date last edited 2018-11-22 15:39:00 +01:00 (CET)

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