Phenotype #0000228359

Individual ID 00301054
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite ZTTKS
Phenotype details developmental delay/intellectual disability; growth deficiency; no Pierre Robin sequence; ;; no enamel hypoplasia; large, posteriorly rotated ears; curly hair; no renal malformation; congenital heart disease; no camptodactyly/no clinodactyly
Inheritance Familial, autosomal dominant
Age/Examination 13y (13 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-06 16:18:59 +02:00 (CEST)
Date last edited N/A

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