Phenotype #0000337163

Individual ID 00447973
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite WSKA
Phenotype details see paper; ..., 6m-height 66 cm (50%ile), OFC 43 cm (50%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum
Inheritance Familial, autosomal dominant
Age/Examination 04y (4 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 2024-02-07 20:01:20 +01:00 (CET)
Date last edited N/A

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