Phenotype #0000345770

Individual ID 00457300
Associated disease UCMD2
Phenotype details IUGR (HP:0001511); joint hypermobility (HP:0001382); frequent falls (HP:0002359); delayed gross motor development (HP:0002194
); high palate (HP:0000218); distal joint hypermobility (HP:0020152); finger joint contracture (HP:0034681); pes planus (HP:0001763); dry skin (HP:0000958); keratosis pilaris (HP:0032152); limb muscle weakness (HP:0003690).
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite UCMD2
Age/Examination 02y10m (2 years, 10 months)
Age/Diagnosis 02y10m
Age/Onset 00y
Phenotype/Onset IUGR (HP:0001511)
Protein deepsubs
Owner name Deepak Subramanian
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Deepak Subramanian
Date created 2024-11-06 08:31:53 +01:00 (CET)
Date last edited 2024-11-08 11:28:39 +01:00 (CET)

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.