Phenotype #0000270868

Individual ID 00375655
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details intellectual disability/developmental delay; dystonic cerebral palsy; microcephaly; seizures; dystonic CP, hypotonia, dystonia; MRI brain globus pallidus signal changes
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 3y
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