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 InternationalCreative Commons License
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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