Phenotype #0000228357

Individual ID 00301052
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; no renal malformation; congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum
Inheritance Familial, autosomal dominant
Age/Examination 29y (29 years)
Age/Diagnosis 00y30m
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-06 16:02:47 +02:00 (CEST)
Date last edited N/A

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