Phenotype #0000116595

Individual ID 00143817
Associated disease ?
Diagnosis/Initial fetal akinesia deformation sequence syndrome (FADS)
Diagnosis/Definite FADS
Phenotype details see paper; lethal; ultra-sound fetal akinesia, joint contractions; facial dysmorphism, pterygia (1 fetus), distal muscle hypoplasia, hydrops, pulmonary hypoplasia; autopsy confirmed muscle atrophy and multiple joint contraction
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2015-03-09 23:38:42 +01:00 (CET)
Date last edited 2015-03-09 23:42:19 +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.