Phenotype #0000348089

Individual ID 00460361
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details see paper; ..., birth weight 2,600g (-2.23); weight 35kg (+2.42); 3y-walk; speech 8-10 words; regression; moderate Intellectual disability; yes (focal mainly, sometimes bilateral tonic clonic and rarely myoclonic jerks); MRI few T2W hyperintensities in the periventricular white matter predominantly in the parieto-occipital regions; hypotonia; no hypertonia; movement disorder; autism, attention-deficient hyperactive disorder, aggression; normal hearing; normal vision
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-01-24 19:20:35 +01:00 (CET)
Date last edited N/A

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