Global Variome shared LOVD

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Phenotype #0000344264 Individual ID 00455731 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y08m Phenotype/Onset - Phenotype details Phenotype: developmental delay observed after 08m of age; motor delay and chorea; Physical examination: normal weight (10.5 kg); normal head circumfence: 45 cm, < 98 percentile; Imaging: electroencephalography normal; MRI: FLAIR hyper intensities in bilateral stratium, bilateral frontotemporal atrophy with CSF space dilation; MRI/CT: widening of Sylvian fissure giving "bat-wing" appearence; After treatment (03y): weight had improved; no observed metabolic crises; able to sit independently and no sign of seizure or dystonia; had cognitively well preserved motor delay Protein - Biochem serum electrolytes, blood glucose, liver function and urinary Orotic acid normal; C5DC 1.28 µmol/l; GA 25.190 mmol/mol creatinine & 3-OH-GA 32.842 mmol/mol creatinine = low excretor; Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-10-18 11:35:42 +02:00 (CEST) Date last edited N/A

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