Phenotype #0000288763

Individual ID	00395565
Associated disease	-
Phenotype details	anterior polar and posterior subcapsular cataract, horizontal nystagmus, rod-cone dystrophy, growth hormone deficiency, intellectual disability, gait disturbance, abnormality of the hypothenar eminence, genu valgum, talipes equinovarus, short neck, male hypogonadism, epicanthus, hypertelorism, low-set ears, microretrognathia, narrow palate, abnormality of the nail, dry skin, erythema
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa, intellectual disability, neurodevelopmental and endocrine disorder, dysmoretinitis pigmentosahic features
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-12-08 14:12:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD