Phenotype #0000355772

Individual ID 00470889
Associated disease MYOP
Diagnosis/Initial muscle weakness
Diagnosis/Definite CMYO4A
Phenotype details see paper; ..., normal motor development, 11m-walki, 3y6m-run/cycle; 10y-slowly progressive muscle weakness foot dorsiflexion, Achilles tendon contractures; difficulties running/climbing stairs/rising from kneeling position; 18y-weakness handgrip strength/difficulty lifting arms; 19y-slender posture, mild myopathic facies, high arched palate, pes cavus, severe atrophy upper legs, contractures both Achilles tendons
Inheritance Familial, autosomal dominant
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Joanna Moraczewska
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-12-12 15:53:32 +01:00 (CET)
Date last edited 2025-12-12 15:56:36 +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.