Phenotype #0000331097

Individual ID 00303563
Associated disease epilepsy
Phenotype details see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 15y (15 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 12:00:28 +01:00 (CET)
Date last edited N/A

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