Global Variome shared LOVD

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Phenotype #0000257405 Individual ID 00362014 Associated disease IDDFBA Diagnosis/Initial - Diagnosis/Definite - Phenotype details (+) Microcephaly,(+) Abnormality of the face,(+) Abnormality of the pinna,(+) Macrotia,(+) Abnormal eyelid morphology,(+) Muscular hypotonia,(+) Global developmental delay Inheritance Unknown Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-04-13 17:27:59 +02:00 (CEST) Date last edited 2021-04-14 13:31:22 +02:00 (CEST)

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