Congenital myotonic dystrophy

disorder

SNOMED 240104008CUI C0410226

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Inverted V-shaped upper lip

Very frequent (80-99%)HP:0010804

Large head

Very frequent (80-99%)HP:0000256

Low facial muscle tone

Very frequent (80-99%)HP:0000297

Mental slowness

Very frequent (80-99%)HP:0031843

Bundle branch block

Frequent (30-79%)HP:0011710

Congenital hypotonia

Frequent (30-79%)HP:0001319

Delayed relaxation of muscle fibres after contraction

Frequent (30-79%)HP:0002486

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

First degree atrioventricular block

Frequent (30-79%)HP:0011705

Poor attention span

Frequent (30-79%)HP:0000736

Premature birth

Frequent (30-79%)HP:0001622

Respiratory distress, neonatal

Frequent (30-79%)HP:0002643

Scoliosis

Frequent (30-79%)HP:0002650

Talipes

Frequent (30-79%)HP:0001883

Verbal dyspraxia

Frequent (30-79%)HP:0011098

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Constipation

Occasional (5-29%)HP:0002019

Deglutition disorder

Occasional (5-29%)HP:0002015

Delayed language development

Occasional (5-29%)HP:0000750

Diarrhea

Occasional (5-29%)HP:0002014

Enuresis

Occasional (5-29%)HP:0000805

Gastro pain

Occasional (5-29%)HP:0002027

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Heart septal defect

Occasional (5-29%)HP:0001671

Hydramnios

Occasional (5-29%)HP:0001561

hyperkinetic disorder

Occasional (5-29%)HP:0000752

Lens opacities

Occasional (5-29%)HP:0000518

Less than 10 fetal movements in 12 hours

Occasional (5-29%)HP:0001558

Low body weight

Occasional (5-29%)HP:0004325

Related Conditions

Steinert myotonic dystrophy syndrome(parent)

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 240104008
UMLS CUI: C0410226
Fully Specified Name: Congenital myotonic dystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.