Phenotype #0000350822

Individual ID 00465284
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite -
Phenotype details see paper; ..., birth OFC 33.5 cm (-0.90); OFC 48.5 cm (-3.43); cranial dysmorphism; severe developmental delay; severe intellectual disability (IQ35); hypertonia; no seizures; autism, hyperactive; MRI brain bright hippocampi; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism
Inheritance Familial, autosomal recessive
Age/Examination 8y1m (8 years, 1 month)
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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