Global Variome shared LOVD

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

Phenotype #0000166820 Individual ID 00218384 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 07y (7 years) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Starting at age 07m: pendular nystagmus (HP:0012043); fundus examniation: normal; mild developmental delay (HP:0011342); borderline intelligence (HP:0006889), macrocephaly (HP:0000256); MRI (age ≤ 03m15d): Widening of Sylvian fissure; MRI(follow-up): T2 hyperintensity in left occipital lobe (disease-related or unmyelination-related) and supratentorial white matter, (for more details on MRI see full text) Protein - Biochem GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 3µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-25 13:26:35 +01:00 (CET) Date last edited N/A

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