Global Variome shared LOVD

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

Phenotype #0000166814 Individual ID 00218372 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y02m21d Diagnosis/Initial - Age/Examination 04y (4 years) Diagnosis/Definite - Age/Diagnosis 00y03m Phenotype/Onset Irritability (HP:0000737, feeding problems (HP:0008872), seizures (HP:0001250), macrocephaly (HP:0000256) Phenotype details Neonatal history: twin gestation, born at week 29, hypospadias (HP:00000479, CT: choroid plexus cyst; Present phenoytpe: development low normal, CNS normal except mild incoordination (HP:0002311) Protein - Biochem - Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-24 11:57:21 +01:00 (CET) Date last edited N/A

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