Global Variome shared LOVD

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Phenotype #0000274268 Individual ID 00380425 Associated disease MRXST Phenotype details Cryptorchidism, Abnormal testis morphology, Abnormal palate morphology, Triangular mouth, High palate, Hypotonia, Bilateral cryptorchidism, Muscular hypotonia of the trunk, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Joint contracture of the hand, Abnormality of mouth shape, Flexion contracture of finger, Abnormal oral morphology, Triangular-shaped open mouth Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-08-17 16:18:56 +02:00 (CEST) Date last edited 2021-08-18 10:51:40 +02:00 (CEST)

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