Global Variome shared LOVD

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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 International 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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