Phenotype #0000210507

Individual ID	00275908
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SNIBCPS
Phenotype details	global developmental delay; walk-3y6m; fine motor delay; first words-1y3m-1y11m; speech repetitive and echolalic; received speech/language therapy; Moderate intellectual disability (IQ 43); no autism/autistic features; no ADHD/ADD; Some OCD-like behavior, some nervous mannerisms, routine oriented; normal weight; normal height; macrocephaly; no hypotonia; no epilepsy, no seizures; Somewhat wide-based, unsteady gait and feet slightly turned in while walking; normal forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, amblyopia; normal hearing; normal heart; normal kidneys; no hernias; Mild scoliosis, thoracic kyphosis, and somewhat exaggerated lumbar lordosis. Mild cubitus valgus of upper extremities; Some dysfunctional uterine bleeding.
Inheritance	Isolated (sporadic)
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-20 21:55:37 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD