Phenotype #0000129961

Individual ID	00165088
Associated disease	ML3C
Phenotype details	7 year-old Chilean boy First child of non-consanguineous parents with no family history of genetic diseases. Pregnancy and delivery were uneventful. Inguinal hernioplasty surgery at 6 months Delayed in reaching motor milestones At 6 years of age he presented joint stiffness of the fingers, shoulders and hips and mild intellectual disability. Skeletal radiography showed mild dysostosis multiplex: hypoplastic iliac bones and slanting acetabular roofs. Shortening of the tubular bones of the hands. Lumbar vertebral bodies with shortened anteroposterior diameter and anterosuperior hypoplasia. Skull and ribs were normal Brain MRI was normal Ocular, hearing and cardiac evaluation was normal No visceromegaly was present No coarse facial features
Diagnosis/Initial	MPS
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ML III gamma
Age/Examination	07y00m (7 years)
Age/Diagnosis	07y00m
Age/Onset	06y00m
Phenotype/Onset	-
Protein	-
Owner name	Renata Voltolini Velho
Database submission license	No license selected
Created by	Renata Voltolini Velho
Date created	2018-06-21 15:28:19 +02:00 (CEST)
Date last edited	2018-06-21 15:36:58 +02:00 (CEST)

Global Variome shared LOVD