Phenotype #0000144387

Individual ID 00184056
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details see paper; …; seizures; EEG hyps, polyspike-wave; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), dyskinesia, (HP:0100660), myoclonus (HP:0001336); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)
Inheritance Isolated (sporadic)
Age/Examination 15y (15 years)
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 2018-10-28 13:05:22 +01:00 (CET)
Date last edited N/A

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