Phenotype #0000319144

Individual ID 00428232
Associated disease ?
Diagnosis/Initial fetal akinesia
Diagnosis/Definite SALMY
Phenotype details reduced fetal movements; multiple joint contractures; dysmorphism; delayed motor development, muscular hypotonia
Inheritance Familial, autosomal recessive
Age/Examination 2m
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 2022-12-24 16:09:43 +01:00 (CET)
Date last edited N/A

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.