Global Variome shared LOVD

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Phenotype #0000229638 Individual ID 00296442 Associated disease PAP Phenotype details see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; no microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; no syndactyly; no cardiac defect; Hirschsprung disease Diagnosis/Initial postaxial polydactyly Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y (3 years) Age/Onset - Phenotype/Onset - Protein - Owner name Sophie Thomas Database submission license No license selected Created by Johan den Dunnen Date created 2020-05-24 16:32:11 +02:00 (CEST) Date last edited N/A

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