Phenotype #0000328281

Individual ID 00438377
Associated disease epilepsy
Phenotype details HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002353 eeg abnormality; HP:0003739 myoclonic spasms; HP:0002333 motor deterioration; HP:0001510 growth delay; HP:0008315 decreased plasma free carnitine; HP:0001410 decreased liver function
Diagnosis/Initial epilepsy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
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 2023-10-20 19:13:42 +02:00 (CEST)
Date last edited N/A

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