Phenotype #0000227646

Individual ID 00300339
Associated disease OI
Phenotype details 3m-died of respiratory failure; 1d-camptodactyly; no clubfeet, feet in varus; multiple rib and clavicle fractures at birth, 2m-humerus fracture; angulated long bones; no osteopenia; mandibular hypoplasia, retrogthia, prominent eyes, broad sal root, facial nevus flammeus, cleft palate, skin dimples; ventricular septal defect, respiratory and feeding difficulties
Diagnosis/Initial suspected kyphomelic dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 3m
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-05-01 12:31:01 +02:00 (CEST)
Date last edited N/A

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