Phenotype #0000350814

Individual ID 00465276
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite -
Phenotype details see paper; ..., birth OFC 34 cm (−0.47); OFC 16y4m-54.6 cm (-1.25); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; hypotonia (infancy), normal; febrile onset then afebrile, partial complex, and GTC; autism, severe self-injury; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; hypothyroidism
Inheritance Familial, autosomal recessive
Age/Examination 20y (20 years)
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 2025-05-05 17:43:47 +02:00 (CEST)
Date last edited N/A

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