Phenotype #0000317748

Individual ID 00426593
Associated disease MDC
Phenotype details 5m-died severe pneumonia; no head control; no motor regression; contractures ankle; no spinal deformity; recurrent respiratory tract infection, severe pneumonia; normal ultrasonic cardiogram; no intellectual disability, no seizures; raised serum CK highest 2d-4110 U/L; EMG 1m-myopathic changes; MRI brain 10d-focal changes; pectus excavatum
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Age/Examination 5m
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset muscle weakness, hypotonia, weak cry
Protein -
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 2022-12-01 16:50:45 +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.