Phenotype #0000297018

Individual ID	00404426
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w length 46.4 cm (-2.32 SD)birth 40w length 46.4 cm (-2.32 SD), weight 2.872 kg (-1.44 SD), OFC 34.3 cm (-0.71 SD); height 113.4 cm (-1.65 SD), weight 19.1 kg (-1.51 SD), OFC 50 cm (at 6 yrs) (-2.07 SD); moderate hypotonia, autism spectrum disorder, borderline intellectual functioning; MRI nonspecifc scattered foci of T2 prolongation in the supratentorial white matter. Otherwise normal.; sat at 12 months, walked at 2 yrs. Age 2 had 35-45 words.; tented upper lip, marked facial flattening, right esotropia, dolichocephaly; no feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; conductive hearing loss; normal haematopoiesis, normal iImmune functioning; obstructive sleep apnea; borderline intellectual functioning, a provisional diagnosis of autism spectrum disorder, hypotonia, short stature and dysmorphic features. There has been some debate on whether or not he has strabismus
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
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