Phenotype #0000331094

Individual ID 00303565
Associated disease epilepsy
Phenotype details see paper; ..., microcephaly; global developmental delay; 6y10m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; thin corpus callosum, decreased white matter; hypotelorism; tone reduced; normal power; sensation normal; ataxic gait; reflexes normal; hip dysplasia
Diagnosis/Initial epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 08y (8 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 2023-11-09 11:50:22 +01:00 (CET)
Date last edited N/A

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