Phenotype #0000346393

Individual ID	00457943
Associated disease	SPDRS
Phenotype details	see paper; ..., global developmental delay (HP:0001263); involuntary movements (HP:0004305) (6m-resteless movements); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); feeding difficulties, irritability; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 18y-bedridden, no voluntary/involuntary movements, intractable epilepsy, spastic quadriplegia, severe constipation, requires strict management intestinal dysfunction, frequent treatment for pneumonia
Diagnosis/Initial	developmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPDRS
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-21 16:24:52 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD