Global Variome shared LOVD

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Phenotype #0000288795 Individual ID 00395597 Associated disease - Phenotype details astigmatism, early onset rod-cone dystrophy, exotropia, myopia, nystagmus, photophobia, abnormality of blood glucose concentration, hypothyroidism, insulin resistance, intellectual disability, motor delay, talipes cavus equinovarus, kyphoscoliosis, abnormal facial shapefetal distress Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Early onset retinitis pigmentosa, neurodevelopmental disorder Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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