Phenotype #0000015382

Individual ID 00017023
Associated disease MRX;IDX
Phenotype details born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy
Diagnosis/Initial intellectual disability
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 15:49:39 +02:00 (CEST)
Date last edited 2021-12-02 11:53:35 +01:00 (CET)

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