Phenotype #0000337691

Individual ID 00448514
Associated disease EPM3;CLN14
Phenotype details Global developmental delay, Intellectual disability, Cerebral palsy, Seizure, Myoclonic seizures, Delayed speech and language development
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-03-19 13:52:45 +01:00 (CET)
Date last edited 2024-03-19 23:00:26 +01:00 (CET)

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