Global Variome shared LOVD

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

Phenotype #0000167535 Individual ID 00218972 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 14y Phenotype/Onset Delayed motor development (HP:0001270), rapid increase of head circumference, coordination problems Phenotype details Disease course: special-needs school and following vocational school (profession: carpenter), mild intellectual disability (HP:0001256), poor language ability, headaches (HP:0002315), discrete features of dystonia (HP:0001276) Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-04 15:42:33 +01:00 (CET) Date last edited N/A

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