Phenotype #0000304470

Individual ID	00412468
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	ODLURO
Phenotype details	macrocephaly (infancy), OFC Z+1.8; no dolichocephaly; large forehead; no epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; developmental speech delay; no developmental regression; intellectual disability, VIQ:71, PIQ:63; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting; everted lower lip, low-hanging columella, pervasive developmental disorder
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-29 09:24:48 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD