Global Variome shared LOVD

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Phenotype #0000143178 Individual ID 00180915 Associated disease OPA Phenotype details Behavioral abnormality (HP:0000708), Obesity (HP:0001513), Microcephaly (HP:0000252), Dysthymia, avoidant, personality disorder, bilateral inguinal hernia, uterine fibroma, hypertension, microcephaly, optic atrophy, hearing loss, obese (BMI 32) Diagnosis/Initial optic atrophy Inheritance Familial, autosomal dominant Diagnosis/Definite OPA-1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality abnormal Hearing/Loss abnormal Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2018-09-10 17:19:36 +02:00 (CEST) Date last edited 2018-11-16 15:42:11 +01:00 (CET)

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