Global Variome shared LOVD

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

Phenotype #0000325233 Individual ID 00434986 Associated disease GO Phenotype details typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); short stature; radiology minimal reduction in bone density Diagnosis/Initial geroderma osteodysplastica Inheritance Familial, autosomal recessive Diagnosis/Definite GO Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-04-17 19:52:36 +02:00 (CEST) Date last edited 2023-04-17 20:15:25 +02:00 (CEST)

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