Phenotype #0000204163

Individual ID 00266393
Associated disease SEMD
Phenotype details no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; upper limbs epiphyseal changes; coxa vara; no short phalanges hand
Diagnosis/Initial spondyloepimetaphyseal dysplasia
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 2019-10-25 13:55:31 +02:00 (CEST)
Date last edited N/A

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