Global Variome shared LOVD

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

Phenotype #0000346417 Individual ID 00457967 Associated disease CDG Diagnosis/Initial glycosylation disorder Diagnosis/Definite CDG1DD Phenotype details see paper; ..., 11m-deceased; facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; bilateral sensorineural hearing loss, auditory evoked potentials inconclusive; MRI brain small corpus callosum; no ophthalmological anomalies; failure to thrive; gastrostomy tube feeding; cholestasis, hepatomegaly; ichthyosis; persistent ductus arteriosus Inheritance Familial, X-linked recessive Age/Examination 11m 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 2024-11-23 10:44:42 +01:00 (CET) Date last edited N/A

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