Global Variome shared LOVD

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Phenotype #0000223863 Individual ID 00296451 Associated disease ? Diagnosis/Initial Weaver syndrome Diagnosis/Definite IMMAS Phenotype details see paper; ..., overgrowth; macrocephaly, mild plagiocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; no round face; hypertelorism; no downslanting palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; no developmental delay; no intellectual disability; normal corpus callosum; advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet (46 at 18y); no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; no cryptorchidism Inheritance Isolated (sporadic) Age/Examination 18y (18 years) 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 2020-04-06 14:06:31 +02:00 (CEST) Date last edited 2020-04-06 16:52:19 +02:00 (CEST)

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