Phenotype #0000187434

Individual ID	00248443
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	distal arthrogryposis
Age/Examination	-
Diagnosis/Definite	DA-5D
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Phenotype details	see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-23 23:23:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD