Phenotype #0000331099

Individual ID 00303557
Associated disease epilepsy
Phenotype details see paper; ..., microcephaly; global developmental delay; 18m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; upslanting palpebral fissures, pes-cavus; tone normal; power reduced; ataxic gait; reflexes reduced
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 17y (17 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 12:05:14 +01:00 (CET)
Date last edited N/A

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