Global Variome shared LOVD

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Phenotype #0000015228 Individual ID 00016703 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss Inheritance Isolated (sporadic) Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-05-27 10:11:41 +02:00 (CEST) Date last edited 2016-06-18 21:34:22 +02:00 (CEST)

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