Phenotype #0000346390

Individual ID 00457940
Associated disease NDD
Diagnosis/Initial global developmental delay,
Diagnosis/Definite SPDRS
Phenotype details see paper; ..., 3y-global developmental delay, short stature, failure to thrive; no facial dysmorphic features; 2y-seizures, retinal degeneration; EEG 3y-bilateral/symmetric spike/wave complexes, polyspikes; unable to sit; no speech; unable to follow commands; intellectual disability (DQ3), dystonic cerebral palsy; growth parametersweiht/height <1st percentile, OFC 52 cm (2nd percentile)
Inheritance Familial, autosomal recessive
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-21 15:46:52 +01:00 (CET)
Date last edited N/A

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