Phenotype #0000242903

Individual ID	00324360
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 3.3kg (p50), ,; weight , ,; motor development speech developmental delay; mild intelletual disability; attention/concentration deficit, hyperactivity, temper tantrums; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; MRI brain normal; ECG-normal; frontal bossing, hairline anomalies, high forehead, micrognathia, prominent forehead, retrognathia, triangular face, deep-set eyes, downslant palpebral fissures, epicanthal folds, hypertelorism, ptosis, short palpebral fissures, posteriorly rotated ears, high palate, thick upper lip.; short fingers; normal hearing; normal eyes;
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 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