Phenotype #0000239682

Individual ID	00315937
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	walk-18; speech delay, 3y-speech therapy; intellectual disability; no seizures; history of hypotonia which has improved; immature motor skills, significant motor planning difficulties ; autism, attention deficit and hyperactivity; difficulty falling asleep; stellate iris pattern; no coloboma; mild ptosis, distichiasis, lagophthalmos, mildly downslanting palpebral fissures; mild accommodative exotropia ; flattened midface, downslanting palpebral fissures, hooded upper eyelids, low-set ears and mild overbite; mild scapular winging; unilateral hearing loss; no family history
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-30 15:23:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD