Global Variome shared LOVD

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Phenotype #0000228358 Individual ID 00301053 Associated disease ? Diagnosis/Initial Braddock–Carey syndrome Diagnosis/Definite ZTTKS Phenotype details developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; renal malformation; no congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum; 4y6m-sparse hair, broad nasal root, U-shaped vermilion upper lip, thickness lower lip, lack of facial expression Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 03y06m 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 2020-05-06 16:11:44 +02:00 (CEST) Date last edited N/A

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