Phenotype #0000351267

Individual ID	00465820
Associated disease	?
Diagnosis/Initial	joint laxity
Diagnosis/Definite	LGMDR1
Phenotype details	see paper; ..., Cutis laxa, hand joint hypermobility, congenital dislocation hip, muscular dystrophy, intellectual disability, hypotonia, strabismus, very mild nystagmus, mitral valve prolapse, atrial septal defect secundum, dysmorphic features (flat occiput, broad nasal bridge, narrowing of the nose, deep groove of nasolabial fold of ala nasi, very short/underdeveloped columella, narrow palate, crowded teeth and pointed chin), scoliosis, overriding toes, hypoplasia of the nails, flat foot
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-06-07 12:17:17 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD