Phenotype #0000172973

Individual ID 00229766
Associated disease MC1DN
Phenotype details mild to moderate bulbar palsy; normal skin; MRI-brain focal histiocytoid change in choroid plexus brain; no epilepsy; intermittent squint; no anemia; histiocytoid cardiomyopathy; focal histiocytoid change in the thyroid and lungs
Diagnosis/Initial MC1DN
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 13m
Age/Diagnosis -
Age/Onset <0d
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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