Global Variome shared LOVD

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Phenotype #0000350670 Individual ID 00464685 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., primary ovarian insufficiency, no bilateral sensorineural hearing loss, no microcephaly; intellectual disability, epilepsy, retinitis pigmentosa, bilateral posterior subcapsular cataracts, obesity, hypothyroidism, menstrual cycle anomalies, psychosis with neurocognitive decline; refractory seizures; mood disturbance, hallucinations; dysphagia with aspiration pneumonia Inheritance Familial, autosomal recessive Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-08 19:53:34 +02:00 (CEST) Date last edited N/A

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