Phenotype #0000304358

Individual ID	00412353
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	last assessment early childhood; height +0.24 SD, OFC -1.05 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia diagnosed during infancy, torticollis; bilateral optic nerve hypoplasia, upward vertical gaze palsy with setting sun phenomenon (resolved during infancy); normal hearing; no dysmorphism; GERD neonatally, resolved during infancy, diarrhea during infancy, later resolved; no autism spectrum disorder, self injurious behavior (head-banging when frustrated, repetitive, without aggression); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; torticollis resolved during infancy, eczema diagnosed as a toddler; MRI brain prominent subarachnoid space of infancy, drooping splenium of the corpus callosum, anterior temporal lobes poorly developed; Abnormal during infancy, encephalopathic features; no cardiac abnormalities
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 19:18:04 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD