Phenotype #0000257126

Individual ID 00361724
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite CDG2N
Inheritance Familial, autosomal recessive
Phenotype details birth weight 50th–75th; OFC >95th; length <5th; weight 25th–50th; OFC 95th; 2y-head control; sit with support; not walking; profound intellectual disability; severe hypotonia; no strabismus; seizures; recurrent infections; MRI progressive atrophy of the cerebellar vermis and hemispheres; MRS elevated lactate peak
Age/Examination 9y (9 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 2021-04-08 11:48:33 +02:00 (CEST)
Date last edited N/A

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