Phenotype #0000351242

Individual ID 00465800
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite JDSCD
Phenotype details see paper; ..., blue sclerae; bilateral radio-ulnar synostosis, severe osteopenia, increased gap between first/second toes, bilateral club feet, atrial/ventricular septal defects; bilateral glaucoma, hypertelorism, upturned nose, anteverted nares, small chest, diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas
Inheritance Familial, autosomal recessive
Age/Examination 01y (1 year)
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 2025-06-05 16:52:15 +02:00 (CEST)
Date last edited N/A

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