Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International 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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