Global Variome shared LOVD

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

Phenotype #0000125524 Individual ID 00152562 Associated disease MEB Phenotype details CK 3000 IU/l, retinal detachment, optic atrophy; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), brainstem hypoplasia (HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864) Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-03 14:44:21 +01:00 (CET) Date last edited N/A

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