Phenotype #0000036629

Individual ID 00049857
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; hypertonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI normal, seizures, EEG abnormal, gastrointestinal issues, ...
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2015-09-13 12:02:52 +02:00 (CEST)
Date last edited 2015-09-13 12:52:23 +02:00 (CEST)

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