Congenital muscular hypertrophy-cerebral syndrome

disorder

SNOMED 55016009CUI C1802395

Overview

Congenital muscular hypertrophy-cerebral syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Epilepsy

Occasional (5-29%)HP:0001250

Attachment of thumb close to wrist

HP:0009623

Brachydactyly

HP:0001156

Cognitive delay

HP:0001263

Convex bridge of nose

HP:0000426

Curvature of digit

HP:0030084

Cutis marmorata

HP:0000965

Decreased body height

HP:0004322

Decreased projection of mandible

HP:0000347

Decreased size of cranium

HP:0000252

Decreased volume of upper lip

HP:0000219

Dilated cerebral ventricle

HP:0002119

Disproportionately small hands

HP:0200055

Down-slanting palpebral fissure

HP:0000494

Downturned corners of mouth

HP:0002714

Eyelid ptosis

HP:0000508

Flat philtrum

HP:0000319

Gastro-esophageal reflux

HP:0002020

Growth delay as children

HP:0008897

High arched palate

HP:0000218

Hirsutism

HP:0001007

Increased length of eyelashes

HP:0000527

Intellectual impairment

HP:0100543

Limited elbow movement

HP:0002996

Low anterior hairline

HP:0000294

Mental deficiency

HP:0001249

Narrow forehead

HP:0000341

Nostrils anteverted

HP:0000463

Problems speaking

HP:0002465

Related Conditions

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 55016009
UMLS CUI: C1802395
Fully Specified Name: Congenital muscular hypertrophy-cerebral syndrome (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.