Phenotype #0000300224

Individual ID	00408096
Associated disease	-
Phenotype details	11 years old girl was born with an uncomplicated perinatal course and found at birth to have right anophthalmia with left iris and retinal coloboma. She underwent placement of right eye prosthesis. Otherwise, she was healthy girl with normal development. On examination, nystagmus and inferior iris coloboma were observed in the left 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	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD