Global Variome shared LOVD

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Phenotype #0000074180 Individual ID 00095890 Associated disease SMDCRD Phenotype details pigmentary maculopathy (HP:0008002), 11y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 6m 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 2017-01-21 16:41:25 +01:00 (CET) Date last edited N/A

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