Phenotype #0000325232

Individual ID 00434985
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), radiology minimally reduced bone density; one fracture, delayed closure of anterior fontanelle
Diagnosis/Initial geroderma osteodysplastica
Inheritance Familial, autosomal recessive
Diagnosis/Definite GO
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-04-17 19:52:36 +02:00 (CEST)
Date last edited N/A

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