Phenotype #0000319018

Individual ID	00428072
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	brith 41w, weight 2,810 g, length 49 cm, OFC 33 cm; absent speech; severe delayed gross motor development; delayed fine motor milestones; severe global developmental delay, intellectual disability; severe seizures present in infancy, sitting position never acquired; no autism; severe hypotonia in infancy, sitting position never acquired; MRI brain thinned corpus callosum, enlarged lateral and 3rd ventricles; very limited interactions; failure to thrive; feeding problems, G-tube; feeding difficulties, dysphagia; no hypoventilation; central blindness; no hearing impairment; microcephaly; no congenital anomalies; muscle biopsy normal
Inheritance	Isolated (sporadic)
Age/Examination	9y6m (9 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 10:47:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD