Phenotype #0000242310

Individual ID 00320269
Associated disease ACG2
Phenotype details (+) Abnormality of the thorax,(+) Deformed rib cage,(+) Abnormality of the skeletal system,(+) Wrist flexion contracture,(+) Bell-shaped thorax,(+) Bilateral talipes equinovarus,(+) Skeletal dysplasia,(+) Abnormality of limb bone morphology,(+) Talipes cavus equinovarus,(+) Multiple skeletal anomalies,(+) Aplasia/hypoplasia involving the skeleton,(+) Limb undergrowth,(+) Abnormality of joint mobility,(+) Abnormality of skeletal morphology,(+) Abnormality of skeletal physiology,(+) Bilateral wrist flexion contracture,(+) Abnormality of limb bone,(+) Contractures of the joints of the upper limbs
Diagnosis/Initial prenatal
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-11-26 15:29:47 +01:00 (CET)
Date last edited 2020-12-09 10:32:54 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.