Global Variome shared LOVD

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Phenotype #0000015225 Individual ID 00016697 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, Blepharophimosis, Ptosis, Hypermetropia +8/+10, Hunched anteverted shoulders, Likely Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Probably Absent ACL (knee), Camptodactyly, Clinodactyly Digit V, Club feet (left), Dimples over large joints, Exertional dyspnea, Weak Tendon reflexes, Normal intelligence, High pain threshold suspected Inheritance Isolated (sporadic) Age/Examination 05y (5 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 09:46:37 +02:00 (CEST) Date last edited 2016-06-18 21:32:21 +02:00 (CEST)

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