Global Variome shared LOVD

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Phenotype #0000334399 Individual ID 00445145 Associated disease ? Diagnosis/Initial macrocephaly, polydactyly Diagnosis/Definite PDMCS Phenotype details see paper; .., macrocephaly, 3y6m-OFC 2.6, 9y9m-OFC +3.02; no ventriculomegaly; polydactyly; autistic; global developmental delay, 12m-sit, 24m-walk, 5y-speaks single words, 5y11m- 3-word sentences; delayed visual maturation; no cardiac phenotype; 4y-perianal abscesses Inheritance Isolated (sporadic) Age/Examination 09y09m (9 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-04 21:07:42 +01:00 (CET) Date last edited 2025-05-01 19:33:31 +02:00 (CEST)

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