Phenotype #0000301970

Individual ID 00409854
Associated disease SRTD1
Phenotype details Bone dysplasia with short ribs associated with some non-specific changes in the hands. The other epiphyses (lower limbs, distal radius, partially included humeral heads) do not show signs of epiphyseal dysplasia. No polydactyly.
Diagnosis/Initial Short rib thoracic dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite Jeune syndrome
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Alessandro De Luca
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Alessandro De Luca
Date created 2022-05-12 13:31:42 +02:00 (CEST)
Date last edited 2022-05-16 10:08:56 +02:00 (CEST)

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