Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000355071 Individual ID 00469926 Associated disease ? Diagnosis/Initial rickets Diagnosis/Definite HHRH Phenotype details see paper; ..., height 128cm (SD−3.5), weight 30kg (SD−4), OFC 50.5cm (SD−3); wrist widening; no pectus carinatum; no pigeon chest; no harisson sulcus; no rachitic rosary; no pot belly; no double malleoli; no genu varum; genu valgum; pes planus; osteopenia; no delayed carpal bone ossification; no small epiphyses; frayed and/or irregular metaphyses; bowing lower limbs; no bowing upper limbs Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-23 13:32:02 +01:00 (CET) Date last edited N/A

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