Phenotype #0000325235

Individual ID 00434988
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); recurrent fracture; radiology low Z score, abnormal cephalometric measurements
Diagnosis/Initial geroderma osteodysplastica
Inheritance Familial, autosomal recessive
Diagnosis/Definite GO
Age/Examination 15y (15 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 2023-04-17 20:18:47 +02:00 (CEST)

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