Phenotype #0000331090

Individual ID 00303558
Associated disease epilepsy
Phenotype details see paper; ..., no microcephaly; global developmental delay; 12m-sit; 2y3m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; large ears, long slender fingers; tone reduced; reflexes increased
Diagnosis/Initial epilepsy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y10m (2 years, 10 months)
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 11:38:24 +01:00 (CET)
Date last edited N/A

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