Phenotype #0000287333

Individual ID	00394127
Associated disease	?
Diagnosis/Initial	regression following infection
Diagnosis/Definite	PEERB
Phenotype details	9m-regression following infection; intrauterine dystrophy, preterm labour; perinatal distress; illness provoked regression; 9m-illness provoked regression events, later pneumonias, infections (gall bladder), but already tetraparesis; normal development prior to first event, regression after first event; CK during illnesses up to 5500 (U/L), intermittent normal range ; MRI 10m-delayed myelination; severe global developmental delay; 7m-sit alone , subsequently lost this ability, never achieved independent walking; no speech; acquired microcephaly, no further head growth after episode at 9m; tetraplegia; dystonia; epilepsy, 3-5 jerks/day, no AEDs; appears clinically to have cerebral visual impairment; recurrent vitamin B12 and folic acid-associated anaemia, cholelithiasis, recurrent pneumonia
Inheritance	Isolated (sporadic)
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	00y09m
Phenotype/Onset	regression following infection
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-30 16:29:41 +01:00 (CET)
Date last edited	2021-11-30 16:34:19 +01:00 (CET)

Global Variome shared LOVD