Phenotype #0000242899

Individual ID	00324356
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 3.64kg (p75), ,; weight p75, height p84, OFC p98; motor development normal; speech furst words normal; moderate intelletual disability; 8y-global IQ43; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; no seizures; MRI brain normal; no congenital anomalies; high and prominent forehead, broad nasal bridge, hypertelorism, open mouth, buccal hypotonia; normal hearing; normal eyes;
Inheritance	Isolated (sporadic)
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Bregje van Bon
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-07 19:16:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD