Phenotype #0000343481

Individual ID	00454874
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; moderate global developmental delay; 19m-walk, gross motor skills are greatest strength although there are some concerns for hypotonia in his core, he runs, goes up and down stairs, and climbs; no speech (5y-babbles, no expressive words, able to communicate with sign words, now says mama, dada, babbling and has assistive communication device); intellectual disability; behavioral issues; Some compulsive behaviors noted; hypotonia; seizures; MRI brain abnormal, 1y-mild type 1 Chiari malformation and thinning of the posterior body of the corpus callosum and mild to moderate end-stage white matter volume loss. Now, no structural abnormalities are identified. There is a slight deficit of NAA in the left centrum semiovale, left thalamus, pons, and superior cerebellar vermis.
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD