Global Variome shared LOVD

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Phenotype #0000228822 Individual ID 00301724 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details intellectual disability (no seizures), short stature, chronic lung disease, and failure to thrive. He looked thin, conscious, alert and oriented. There was no history of weakness or fatigue. There was no ptosis and he had normal extraocular movements. The rest of the cranial nerve examination was normal. Motor examination was normal. no weakness and no fatigable weakness. He had 3 affected brother with same condition. Brain MRI was unremarkable. Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - 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 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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