Phenotype #0000000584

Individual ID 00001152
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 01y
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, minimal neurological signs, able to lead a normal life
Protein -
Biochem 3-OH-GA(urine): 149 mmol/mol creatinine (c: 2-14); GA(urine):5488 mmol/mol creatinine (c: 2-10)
Enzyme/Activity -
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 2013-11-20 14:39:12 +01:00 (CET)

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