Phenotype #0000300228

Individual ID	00408100
Associated disease	-
Phenotype details	9 years old female child was born at term with normal birth weight and uncomplicated perinatal course. At the age of one year she developed dry skin with scaling and diagnosed to have ichthyosis. At the age of 18 months, she developed toe walking. She had normal development and cognition. Her examination demonstrated normal growth parameters and lower limb spasticity. Echocardiogram showed atrial septal defect. Her parents were cousins; and she had one healthy brother and two similarly affected sisters.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Sjogren-Larsson syndrome
Age/Examination	9y (9 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