Global Variome shared LOVD

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

Phenotype #0000346419 Individual ID 00457969 Associated disease CDG Diagnosis/Initial glycosylation disorder Diagnosis/Definite CDG1DD Phenotype details see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; corneal erosion right eye; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; no dermatological findings; stridor; respiratory insufficiency requiring BiPAP; scoliosis knee contractures Inheritance Familial, X-linked recessive Age/Examination 4y (4 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 2024-11-23 10:44:42 +01:00 (CET) Date last edited N/A

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