Global Variome shared LOVD

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Phenotype #0000309865 Individual ID 00418529 Associated disease SMD Diagnosis/Initial spondylometaphyseal dysplasia Diagnosis/Definite - Phenotype details hypotonia; normal developmental milestones; poor feeder; height 140.8 cm (-4.9 SD); moderate rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, mid-thoracic; broad thumb; no acromelia; triangular face (when younger); multiple Wormian bones; normal palate; platyspondyly; metaphyseal changes; slender bones with thin cortices, mild bowing femur, small irregular femoral heads; multiple fractures (arm as infant, wrist aged 8y, wedge T6 vertebra), blue sclerae Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Onset 00y08m Phenotype/Onset poor weight gain, unusual limb proportions, hypotonia, large head 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 2022-09-29 19:59:45 +02:00 (CEST)

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