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 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 2024-11-21 15:59:08 +01:00 (CET)

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