Global Variome shared LOVD

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Phenotype #0000074178 Individual ID 00095888 Associated disease SMDCRD Phenotype details pigmentary maculopathy (HP:0008002), 27m 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), decreased visual acuity (HP:0007663) - best coorect 20/250 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 27m 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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