Phenotype #0000346391

Individual ID	00457941
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	SPDRS
Phenotype details	see paper; ..., severe atopic dermatitis, developmental delay, failure to thrive; 3y-quadriplegic cerebral palsy, moderate axial hypotonia, frequent purposeless movements, mild spasticity distal lower extremities; no speech, vocalized with no words; unable to follow commands; MRI brain normal, qualitative diffusion tensor imaging; 6y-not sitting, severe movement disorder
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-21 15:46:52 +01:00 (CET)
Date last edited	2024-11-21 15:59:08 +01:00 (CET)

Global Variome shared LOVD