Phenotype #0000230541

Individual ID	00303461
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDAHM
Phenotype details	severe intellectual disability; speech little expressive language (few single words); behaviour loses temper, bangs head, cries, screams; height 3y4m 90.7 cm (2nd-9th), 9y10m 131.2 cm (9th-25th); OFC 3y11m 45.2 cm (<0.4th); increased tone in the lower limbs, with pathologically brisk reflexes and extensor plantar responses; delayed gross motor development, walk-24m; MRI showed dysgenic corpus callosum with dysmorphic ventricles; slight prominence of CSF spaces; normal cisterna magna, white matter, deep grey structures and calcification (data not shown); 2y-single episode of status epilepticus, ongoing seizure disorder controlled by AEDs (resolved as teenager); coarse facial features, low anterior hairline; mirror movements fingers; thick dry curly hair, squint, iron deficiency, anaemia
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-12 19:05:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD