Phenotype #0000348322

Individual ID 00460600
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite SIHIWES
Phenotype details see paper; ..., motor delay, 5y-walk; speech delay; intellectual disability; postaxial polydactyly (hands); MRI brain arnold-chiari malformation, hydrocephalus, syringomyelia; ECG pulmonary valvar abnormality, ventricular septal defect, and interatrial communication.; astigmatism; recurrent urinary tract infections, anterior placed anus
Inheritance Isolated (sporadic)
Age/Examination 11.5y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-01-28 15:50:33 +01:00 (CET)
Date last edited N/A

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