Phenotype #0000141829

Individual ID	00177012
Associated disease	EE
Phenotype details	no pre-/perinatal anomalies; birth 41w1d, weight 4120 g, length 51 cm; severe intellectual disability (HP:0001249); normal behavior; developmental delay; no sit, no walk; no speech; 3d-seizures, myoclonic seizures, tonic seizures, 1-7 seizures/day pharmacoresistant, no acquired microcephaly; spasticity, bilateral contractures knees; high narrow palate (HP:0002705); cortical visual impairment, gastro-jejunal tube; EEG-frontocentral spike-wave activity sides, burst suppression; 4d-MRI normal; 44y-MRI generalized supra- and infratentorial atrophy, bilateral hippocampal atrophy, left-sided hippocampal sclerosis, atrophy orpus callosum
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	DEE11
Age/Examination	16y04m (16 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	neonatal (HP:0003623)
Protein	-
Owner name	Anaïs Begemann
Database submission license	No license selected
Created by	Anaïs Begemann
Date created	2018-08-16 11:34:53 +02:00 (CEST)
Date last edited	2021-12-27 21:16:44 +01:00 (CET)