Phenotype #0000350352

Individual ID 00464289
Associated disease ?
Diagnosis/Initial facial dysmorphisms
Diagnosis/Definite -
Phenotype details see paper; ..., intrauterine growth retardation; micrognathia; cleft palate; no tracheostomy; no congenital heart disease; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly
Inheritance Familial, autosomal dominant
Age/Examination -
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 2025-02-28 13:47:37 +01:00 (CET)
Date last edited N/A

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