Phenotype #0000355018

Individual ID	00469873
Associated disease	skeletal dysplasia
Diagnosis/Initial	leg deformity, wrist widening
Diagnosis/Definite	VDDR2A
Phenotype details	see paper; ..., height 76cm (SD−6), OFC 47cm (SD−2.4); wrist widening; no pectus carinatum; pigeon chest; harisson sulcus; rachitic rosary; pot belly; double malleoli; genu varum; no genu valgum; osteopenia; delayed carpal bone ossification; small epiphyses; frayed and/or irregular metaphyses; bowing lower limbs; bowing upper limbs; carious teeth, sparse eyebrows, joint laxity, lumbar kyphosis
Inheritance	Familial, autosomal recessive
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	leg deformity, wrist widening
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 12:33:13 +01:00 (CET)
Date last edited	2025-11-23 13:08:22 +01:00 (CET)

Global Variome shared LOVD