All individuals with variants in gene MYOD1

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00056440 - PubMed: Watson 2016, Journal: Watson 2016 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents - yes (United Kingdom (Great Britain)) white - - - - FADS see paper; data from 3 children, died <2d, ... 1 3 Christopher Watson
00417857 patient PubMed: Ashton 2022 2 generation family, 1 affected, unaffected parents F yes Australia - - - - - MYOP see paper; ..., slowly progressive dyspnoea over six years, generalised weakness; 38y-30w pregnant respiratory distress, pre-eclampsia; no pre-natal anomalies, no neonatal death; triangular face, no slanting palpebral fissures, ptosis (operated), prognathia (operated), narrow mandible; adult onset respiratory symptoms, diaphragm high domes, respiratory muscle weakness, no pulmonary hypoplasia, adult nocturnal bi-level positive airway pressure support; very mild dysphagia; thoracic kyphoscoliosis; mild proximal muscle weakness; small hands; no hypertrichosis; no renal anomalies 1 1 Johan den Dunnen
00417858 FamPatIII1 PubMed: Watson 2016 3 generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes United Kingdom (Great Britain) white 00y00m02d - - - FADS prenatal cystic hygroma polyhydramnios; see paper; ..., birth 35w+5, low weight; neonatal death; triangular face, downslanted palpebral fissures, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm right-sided eventration, pulmonary hypoplasia, ventilatory support; generalized muscle weakness; clinodactyly; bilateral cryptorchidism; bilateral renal pelvis distension 1 3 Johan den Dunnen
00417859 patient PubMed: Lopez 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Portugal - - - - - MYOP no pre-natal anomalies; birth at term, weight normal; no neonatal death; triangular face, downslanted palpebral fissures, ptosis, proptosis, prognathia, high-arched palate, dental malocclusion; respiratory insufficiency due to muscle weakness, diaphragm high domes, no pulmonary hypoplasia, nocturnal bi-level positive airway pressure support; generalized muscle weakness, fatigable weakness of swallowing muscles; clinodactyly; congenital generalized hypertrichosis; small kidneys 1 1 Johan den Dunnen
00417860 FamPatIII2 PubMed: Watson 2016 brother M - United Kingdom (Great Britain) - 00y00m01d - - - FADS see paper; ..., prenatal polyhydramnios; birth 35w+1, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm very high domes, pulmonary hypoplasia; generalized muscle weakness; clinodactyly; unilateral cryptorchidism; unlateral hydronephrosis 1 1 Johan den Dunnen
00417861 FamPatIII4 PubMed: Watson 2016 half-sister F - United Kingdom (Great Britain) - 00y00m01d - - - FADS see paper; ..., prenatal cystic hygroma; birth 37w, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm extremely high domes, pulmonary hypoplasia; generalized muscle weakness; no clinodactyly; renal hypoplasia 1 1 Johan den Dunnen
00417863 family PubMed: Shukla 2019 2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F yes India - - - - - MYOP see paper 1 1 Johan den Dunnen
Legend   How to query  

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.