Phenotype #0000333758

Individual ID 00444505
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorders
Diagnosis/Definite -
Phenotype details Hypotonia, severe global developmental delay, behavior troubles, trunk hyperpigmentation, short stature -3 SD, bilateral hearing impairement, short corpus callosum
Inheritance Isolated (sporadic)
Age/Examination 10y-20y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-12-24 18:16:19 +01:00 (CET)
Date last edited N/A

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