Phenotype #0000037042

Individual ID 00050430
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details global developmental delay, optic atrophy, recurrent urinary tract infections, natal tooth, 2-3 finger syndactyly, delayed cns myelination, high palate, coarse hair, neonatal hypotonia, cryptorchidism
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited N/A

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