Phenotype #0000000543

Individual ID 00001111
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Macrocephaly (HP:0000256), NO movement disorder, average IQ; At latest follow-up (age 24y): asymptomatic;
MRI: characteristically wide anterior temporal and sylvian CSF spaces and atrophy (cerebellum most affected), white matter abnormalities with involvement of the median corpus callosum
Protein -
Biochem GA(urine): >2000mmol/mol creatinine; 3-OH-GA(urine): 50mmol/mol creatinine
Enzyme/Activity Residual activity: 0%
Owner name Katrin Hinderhofer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-04-17 17:21:21 +02:00 (CEST)
Date last edited 2018-12-18 12:37:59 +01:00 (CET)

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