Phenotype #0000325230

Individual ID 00434983
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 normal bone density; congenital dislocation hip
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 19:31:32 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.