Phenotype #0000297594

Individual ID	00405036
Associated disease	EIEE53
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Global developmental delay, Seizure, Generalized-onset seizure, Gait disturbance, Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure precipitated by febrile infection, EEG abnormality, Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Abnormality of visual evoked potentials, Abnormal timing of flash visual evoked potentials, Abnormality of metabolism/homeostasis, Hypotonia, Infantile axial hypotonia, Recurrent fever, Fever, Oral motor hypotonia, Restlessness, Short attention span
Inheritance	Familial, autosomal recessive
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2022-03-14 11:41:47 +01:00 (CET)
Date last edited	2022-03-15 16:33:32 +01:00 (CET)

Global Variome shared LOVD