Phenotype #0000172972

Individual ID 00229765
Associated disease MC1DN
Phenotype details axial hypotonia; linear skin defect; lacrimalduct atresia; failure to thrive; no anemia; no lactic acidosis; histiocytoid cardiomyopathy; died at age 6m, autopsy revealed thyroid abnormalities (large and multiple sites of oncocytic metaplasia)
Diagnosis/Initial MC1DN
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 6m
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Protein -
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 2019-04-09 21:34:13 +02:00 (CEST)
Date last edited N/A

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