Phenotype #0000311165

Individual ID	00419896
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w2d; no IUGR; poor growth during childhood (12y-resolved); hypotonia; global developmental delay; no gross motor delay; no fine motor delay; 9m-sit; 13m-walk; speech delay; mild intellectual disability, 10y9m-WISC-IV, verbal comprehension index 67, perceptual reasoning index 53; behavioral problems; hyperactivity/ADHD; no anxiety; 7y-oppositional defiant disorder; no microcephaly; no seizures; heel-walking associated with right upper extremity posturing; myopia; no strabismus; normal hearing; epicanthal folds, broad nasal bridge, thin upper lip, mildly atypical pinnae; atypical antihelix; mild superior posterior skull flattening; normal hands/feet; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD