Phenotype #0000350811

Individual ID 00465273
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite -
Phenotype details see paper; ..., birth OFC 33.5 cm (-1.14); OFC 9y10m-52.8 cm (-1.02); no cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability; normal muscle tone; severe, medically refractory seizures; autism, challenging behavior; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies
Inheritance Familial, autosomal recessive
Age/Examination 17y7m (17 years, 7 months)
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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