Phenotype #0000233038

Individual ID 00307233
Associated disease DA
Phenotype details antenatal onset; hydrops fetalis; abnormal facial shape; small anterior fontanelle; sagittal craniosynostosis; hypertelorism; wide mouth; retrognathia; cleft palate; webbed neck; low-set ears; multiple pterygia; bilateral talipes equinovarus (severe); abnormality musculature limbs; abnormality of brain morphology
Diagnosis/Initial distal arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Gianina Ravenscroft
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-08-05 17:01:04 +02:00 (CEST)
Date last edited 2020-10-27 08:49:44 +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.