Global Variome shared LOVD

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Phenotype #0000143884 Individual ID 00183130 Associated disease MRX;IDX Phenotype details ong (flat) philtrum (HP:0000299) (1); ptosis (HP:0001488) (6); carp-shaped mouth (HP:0010806) (1); narrow shoulders or thorax (HP:0006664) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (6); distal muscle weakness (HP:0002460) (6); retardation of motor development (HP:0001263) (6); intellectual disability (HP:0001249) (6) Diagnosis/Initial intellectual disability, arthrogryposis multiplex congenita Inheritance Familial, X-linked recessive Diagnosis/Definite WRWF Age/Examination 27y-74y Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-10-14 12:07:53 +02:00 (CEST) Date last edited 2019-05-27 12:37:39 +02:00 (CEST)

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