Global Variome shared LOVD

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Phenotype #0000284838 Individual ID 00391502 Associated disease CEBALID Diagnosis/Initial - Diagnosis/Definite - Phenotype details Muscular hypotonia, Global developmental delay, Motor delay, Abnormality of the nasal bridge, Wide nasal bridge, Prominent forehead, Abnormal eyelid morphology, Low-set ears, Thin upper lip vermilion, Edema, Edema of the dorsum of hands, Anteverted nares, Abnormality of earlobe Inheritance Isolated (sporadic) Age/Examination 00y06m (6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-11-17 11:51:34 +01:00 (CET) Date last edited 2022-03-27 09:35:33 +02:00 (CEST)

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