Global Variome shared LOVD

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Phenotype #0000325660 Individual ID 00435471 Associated disease skeletal dysplasia Diagnosis/Initial - Diagnosis/Definite RLSDF Phenotype details BMI 28.8 kg/m2; length 157 cm (below 5th centile), OFC 57 cm (>75th centile); Upper and lower limb rhizomelia; no hypotonia; delayed developmental milestones; no kyphosis/hyperlordosis; short thumbs, bilateral short fifth finger; sandal gap; prominent forehead, downslanting palpebral fissures and hypertelorism; sloping shoulders; macrocephaly; genu varum, patellofemoral joint dislocation, incomplete supination, chronic joint pain; laryngomalacia; branchial cleft defect; hearing impairment; no cardiovascular anomalies Inheritance Familial, autosomal recessive Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-07-31 14:44:28 +02:00 (CEST) Date last edited N/A

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