Phenotype #0000298408

Individual ID 00405911
Associated disease SRTD
Diagnosis/Initial Jeune syndrome/Ellis-van Creveld syndrome
Diagnosis/Definite Jeune syndrome/Ellis-van Creveld syndrome
Phenotype details Dysplastic nails, short stature, narrow thorax, limb shortening, bilateral hads and feet postaxial polydactyly, brachydactyly, hand-feet syndactyly, hypertrabeculature of left ventricle apex, renal anaomalies
Inheritance Familial, autosomal recessive
Age/Examination 00y04m (4 months)
Age/Diagnosis 00y04m
Age/Onset -
Phenotype/Onset -
Owner name Alessandro De Luca
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Alessandro De Luca
Date created 2022-03-23 13:30:42 +01:00 (CET)
Date last edited 2022-03-28 10:38:23 +02:00 (CEST)

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