Global Variome shared LOVD

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Phenotype #0000328874 Individual ID 00438976 Associated disease ? Diagnosis/Initial movement disorder Diagnosis/Definite - Phenotype details see paper; ..., abnormal movements, restlessness; severe axial hypotonia; suboptimal head balance; no ataxia; no pyramidal signs; extrapyramidal signs, choreic movements and opisthotonus; short periods of fixation; some head balance, tries to reach for objects; severe swallowing problems (nasogastric tube); no speech; severe global delay; no epilepsy; lack of maxillary incisors; failure to thrive; OFC normal; hearing abnormal brainstem evoked acoustic responses; prone to respiratory tract infections; bacterial meningitis Inheritance Familial, autosomal recessive Age/Examination 1y9m (1 year, 9 months) Age/Diagnosis - Age/Onset 2d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-26 21:30:32 +02:00 (CEST) Date last edited N/A

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