Phenotype #0000297035

Individual ID	00404443
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w length 48.3 cm (-1.03 SD)birth 40w length 48.3 cm (-1.03 SD), weight 3.15 cm (-0.56 SD), OFC 34.3 cm (-0.2 SD); height 158.5 cm (-0.83 SD), weight 54.5 kg (-0.30 SD), OFC 49 cm (11 yrs) (-3.96 SD); seizures starting at 16 yrs, autism, hypotonia; MRI normal; severe intellectual disability (uses 5 words), walked at 3.5 yrs, mild LE spasticity; pseudo-cleft lip, cleft palate, coarse facial features, brachycephaly, ears that are mildly displaced with thickened helices, striking epicanthal folds with very short, downslanting palpebral fissures, thick alae nasi, broad nasal bridge, and short neck; cleft soft palate; acne; no pubertal development; no skeletal anomalies; mild conductive loss associated with recurrent otitis media; strabismus; normal haematopoiesis, normal iImmune functioning; hypotonia with CP; impulsive behaviors, family history is significant for a sister who died during the neonatal period of causes unknown and another sister with tetralogy of Fallot, mild learning delays, and vertebral anomalies
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 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