Phenotype #0000299827

Individual ID 00407680
Associated disease DEE13
Phenotype details Microcephaly, Neurodevelopmental delay, Absent speech, Seizure, Hypotonia, Strabismus, Scoliosis, Myoclonic seizure, Coloboma, Generalized tonic seizure, Dystonia, Failure to thrive, Short stature, EMG: positive sharp waves, Intellectual disability, profound, Partial agenesis of the corpus callosum, Abnormal cortical gyration
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 08y (8 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 2022-04-07 16:05:44 +02:00 (CEST)
Date last edited 2022-04-07 20:14:21 +02:00 (CEST)

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