Phenotype #0000221961

Individual ID	00288224
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	abnormal EEG, cerebral palsy, cyclical vomiting, developmental delay, developmental regression, epilepsy, exotropia, failure to thrive, hypermetropia, hypertonia, hypotonia, intussusception, involuntary movements, langerhans cell histiocytosis, muscle weakness, myoclonus, optic atrophy, patent foramen ovale, periventricular white matter hyperdensities, poor eye contact, respiratory failure, respiratory tract infections, retinal atrophy, seizures, spasticity, visual impairment
Inheritance	Familial
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-02-16 14:03:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD