Phenotype #0000223048

Individual ID	00289438
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-09 19:47:29 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD