Phenotype #0000242374

Individual ID 00320361
Associated disease ?
Diagnosis/Initial congenital neuropathy
Diagnosis/Definite -
Phenotype details birth 37w; died 10w; no polyhydramnios; no reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; distal weakness/reduced grasp; head lag; facial weakness; feeding difficulties
Inheritance Familial, autosomal recessive
Age/Examination 70d
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 2020-11-27 15:59:18 +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.