Global Variome shared LOVD

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Phenotype #0000300225 Individual ID 00408097 Associated disease - Phenotype details 8 year old girl was born with an uncomplicated perinatal course and found to have left anophthlmia with right iris and retinal coloboma. She underwent left eye prosthesis placement. Otherwise, she was healthy girl with normal development. On examination, nystagmus and inferior iris coloboma were observed in the right eye. Her parents were consanguineous and she had an affected sister and healthy sister and two brothers. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Microphthalmia, isolated 8 Age/Examination 8y (8 years) 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 2022-04-13 19:19:00 +02:00 (CEST) Date last edited N/A

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