Phenotype #0000236640

Individual ID	00311393
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth weight normal, length normal; normal height, normal weight, OFC 0.8; developmental delay/intellectual disability, TIQ 55; gross motor delay, fine motor delay, walk-18m; speech delay, 4y-first words in sentences; no autism, no attention deficit hyperactivity disorder, Impulsivity; no hypotonia; no sleep problems; no hearing loss; normal vision; muscle weakness; normal skin; midface flattening, normal forehead, downslanting palpebral fissures, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain left temporal arachnoid cyst, hypoplasia of left temporal horn, mild frontal atrophy, left ventricle larger than right ventricle; ECG normal; renal ultrasound normal; hypereflexia
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-24 16:15:46 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD