Phenotype #0000309866

Individual ID 00418530
Associated disease SMD
Diagnosis/Initial spondylometaphyseal dysplasia
Diagnosis/Definite -
Phenotype details normal developmental milestones; height 143.8 cm (-3.11 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; no acromelia; mild shortening toes; normal face; normal palate; mild platyspondyly; metaphyseal changes, broadened and irregular; normal bone density
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Onset 2y
Phenotype/Onset short stature
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 2022-09-29 19:58:49 +02:00 (CEST)
Date last edited N/A

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