Global Variome shared LOVD

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

Phenotype #0000257128 Individual ID 00361726 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite CDG2N Inheritance Familial, autosomal recessive Phenotype details birth length normal; birth weight normal; OFC normal; length 5th; weight 5th; OFC 50th; no head control; not sitting; not walking; severe intellectual disability ; severe hypotonia; strabismus; no seizures; hyperreflexia; MRI mild atrophy of the cerebellar vermis and hemispheres; cerebral atrophy, particularly of the frontal lobes Age/Examination 2y (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 2021-04-08 11:48:33 +02:00 (CEST) Date last edited N/A

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