Phenotype #0000129963

Individual ID	00165090
Associated disease	ML3C
Phenotype details	Occurrence in an extended family of autosomal recessive spondyloepiphyseal dysplasia (SED) and retinitis pigmentosa (RP). Individual family members initially presented with spondyloepiphyseal dysplasia leading to multiple surgeries in the third to sixth decade. It was later determined that a retinitis pigmentosa phenotype, presenting in the third and fourth decades with decreased night vision and leading to significant peripheral and central vision loss or blindness by the fifth to seventh decade, co-segregated with the SED phenotype. Additionally, affected individuals had a high incidence of corneal abnormalities.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ML III gamma
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Renata Voltolini Velho
Database submission license	No license selected
Created by	Renata Voltolini Velho
Date created	2018-06-21 16:00:17 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD