Phenotype #0000015389

Individual ID 00017030
Associated disease MRX;IDX
Phenotype details moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died
Diagnosis/Initial intellectual disability
Inheritance Familial, X-linked
Diagnosis/Definite -
Age/Examination 48y (48 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 2014-06-06 14:28:00 +02:00 (CEST)
Date last edited 2021-12-02 11:20:15 +01:00 (CET)

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