Phenotype #0000161527

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213045
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	00y07m
Phenotype/Onset	-
Phenotype details	Presentation: developmental delay (HP:0001263), dystonia (HP:0001276), severe movement disability, macrocephaly (HP:0000256); Neuroimaging: widened Sylvian fissures
Protein	-
Biochem	glutarylcarnitine(blood): increased
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-07 15:48:28 +01:00 (CET)
Date last edited	N/A

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