Global Variome shared LOVD

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Phenotype #0000227960 Individual ID 00300649 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Cryptorchidism (HP:0000028); Testicular atrophy (HP:0000029); Ureteral stenosis (HP:0000071); Vesicoureteral reflux (HP:0000076); Facial hypotonia (HP:0000297); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Hip dysplasia (HP:0001385); Abnormal facial shape (HP:0001999); Nail dysplasia (HP:0002164); Areflexia of lower limbs (HP:0002522); Genu recurvatum (HP:0002816); Short stature (HP:0004322); Pes valgus (HP:0008081) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2020-05-04 10:36:01 +02:00 (CEST) Date last edited 2020-05-28 14:26:16 +02:00 (CEST)

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