Phenotype #0000292310

Individual ID 00231347
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDLIB
Inheritance Isolated (sporadic)
Phenotype details OFC 25th -50th; developmental delay; intellectual disability; no seizures; no autism spectrum disorder; psychomotor regression; no speech; brain MRI white matter changes; ataxic gait, dystonia
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-17 14:18:43 +01:00 (CET)
Date last edited N/A

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