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
Created by	Johan den Dunnen
Date created	2020-05-06 16:11:44 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD