Phenotype #0000325231

Individual ID	00434984
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), reduced bone density; radiology kyphoscoliosis, cod-fish vertebrae, low Z score; recurrent fractures
Diagnosis/Initial	geroderma osteodysplastica
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GO
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-04-17 19:41:56 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD