Global Variome shared LOVD

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

Phenotype #0000171434 Individual ID 00226309 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m Diagnosis/Initial - Age/Examination 03y (3 years) Diagnosis/Definite - Age/Diagnosis 01y07m Phenotype/Onset Clonic convulsions (HP:0001250) Phenotype details Severe handicap: hypotonia (HP:0001252), dystonia (HP:0001276), no head control, neurologic regression, muscle hypertonia (HP:0001276), macrocephaly (HP:0000256); CT: loss of cerebral volumen, white matter hypodensity; MRI: extensive white matter hypodensities and enlarged subarachnoid spaces Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-03-07 11:52:03 +01:00 (CET) Date last edited N/A

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