Phenotype #0000233014

Individual ID 00307209
Associated disease FADS
Phenotype details antenatal onset fetal akinesia sequence; neonatal hypotonia; macrocephaly at birth; frontal bossing; cryptorchidism; congenital finger flexion contractures; contractures joints upper limbs; contractures joints lower limbs; aplasia/hypoplasia; palmar creases
Diagnosis/Initial fetal akinesia deformation sequence
Inheritance Isolated (sporadic)
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.