Phenotype #0000352836

Individual ID 00467624
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite CDG2I
Phenotype details see paper; ..., neurological disorders; neuromotor developmental delay, mild learning disability, dysmetria and dysdiadochokinesia, seizure,imbalance to especially right side, generalized hypertrichosis, dysmorphic facial features; MRI diffuse cerebellar atrophy; no cardiac anomalies
Inheritance Familial, autosomal recessive
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset 7m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-10-24 22:46:25 +02:00 (CEST)
Date last edited N/A

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