Global Variome shared LOVD

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

Phenotype #0000125517 Individual ID 00152555 Associated disease MEB Phenotype details CK 3451 IU/l, cataracts, glaucoma; brain MRI no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), 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 02y (2 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 14:21:03 +01:00 (CET) Date last edited N/A

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