Phenotype #0000242920

Individual ID	00324377
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 3.650kg (p50), ,; weight p50, height p97, OFC p97; motor development almost absent at 16 ys, oral dyspraxia, communication with sign, gestures and mimic. trog test , 4 ys at 13 ys, significant differences between expressive and receptive language skills.; mild intelletual disability; 10y-general I58, fluid reasoning score 52; aggressive, impulsive, violent. concentration deficit, hyperactity. autistic features (no shared activities, repetitive and atypical interests in objects); no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; no seizures; 6y-EEG poor organization of the background rhythm and diffuse slowing (no epileptiform potentials); 6y-MRI brain normal; no congenital anomalies; long face, high forehead, small midface. small chin. primonent nasal bridge. broad nasal tip. broad philtrum. narrow naris. thin upper lip, thick lower lip, high palate, small ear-lobules, synophrys, short palpebral fissures, ptosis, periorbital fullness, epicanthal folds, deep-set eyes, blepharophimosis.; pectus excavatum. clinodactyly of 5th finger. broad great toes; normal eyes;
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 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

ECE1 (endothelin converting enzyme 1)

Phenotype #0000242920