Phenotype #0000015365

Individual ID 00017006
Associated disease MRX;IDX
Phenotype details moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy
Diagnosis/Initial intellectual disability
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 17y (17 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 2014-05-30 14:30:08 +02:00 (CEST)
Date last edited 2021-12-02 11:00:36 +01:00 (CET)

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