Phenotype #0000000508

Global Variome shared LOVD

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

Individual ID	00001076
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	02y (2 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	psychomotor delay and slight macrocephaly; MRI (T2-weighed) showed bilateral hyperintensity of periventricular white matter, cerebellum hemipheres and both putamina; high excretion of glutarate and 3-hydroxyglutarate
Protein	-
Biochem	-
Enzyme/Activity	-
Owner name	Katrin Hinderhofer
Database submission license
Created by	Julia Lopez
Date created	2013-04-17 17:21:21 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.