Phenotype #0000231390

Individual ID	00305541
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 39w, weight 3200 (normal); height 114 (normal), OFC 50 (normal); intellectual disability IQ50; developmental delay; no motor delay; speech delay (severe); NA (absent speech); no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, attention deficit hyperactivity disorder, obsessive compulsive disorderno behavioral disturbanceslike, overeating, dysphoria, stereotypy; sleep disturbances; no facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; No allergies; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; Eczema; normal hands, normal feet; Toe walker
Inheritance	Isolated (sporadic)
Age/Examination	4y9m (4 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-28 10:52:31 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD