Phenotype #0000297030

Individual ID	00404438
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w length 47.8 cm (-1.62 SD)birth 40w length 47.8 cm (-1.62 SD), weight 2.94 cm (-1.29 SD), OFC 34 cm (-0.95 SD); height 82 cm (-1.08 SD), weight 10.5 cm(-1.38 SD), OFC 46 cm (-3.02 SD); Axial hypotonia; brain MRI and MRS normal; severe global developmental delay; No coarse dysmorphism. Flat philtrum.; feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
Inheritance	Isolated (sporadic)
Age/Examination	1y10m (1 year, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-02 10:20:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD