Phenotype #0000015379

Individual ID 00017020
Associated disease MRX;IDX
Phenotype details moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4)
Diagnosis/Initial intellectual disability
Inheritance Familial, X-linked recessive
Diagnosis/Definite MRXSR
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Andreas Tzschach
Database submission license No license selected
Created by Andreas Tzschach
Date created 2014-06-04 13:37:58 +02:00 (CEST)
Date last edited 2021-12-02 10:30:56 +01:00 (CET)

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