Phenotype #0000016180

Individual ID	00016949
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features
Age/Examination	05y11m (5 years, 11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Bernt Popp
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2014-06-30 22:02:41 +02:00 (CEST)
Date last edited	2015-06-15 12:59:25 +02:00 (CEST)

Global Variome shared LOVD