Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

disorder

SNOMED 715429006CUI C2931578

Overview

Congenital muscular dystrophy with infantile cataract and hypogonadism 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.

Abnormality of the ovary

Very frequent (80-99%)HP:0000137

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased testicular size

Very frequent (80-99%)HP:0008734

Gait disturbance

Very frequent (80-99%)HP:0001288

Mask-like facies

Very frequent (80-99%)HP:0000298

Muscular dystrophy

Very frequent (80-99%)HP:0003560

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Cataract

Frequent (30-79%)HP:0000518

Eye drop

Frequent (30-79%)HP:0000508

Hunched back

Frequent (30-79%)HP:0002808

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Outward turned elbows

Frequent (30-79%)HP:0002967

Squint

Frequent (30-79%)HP:0000486

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Related Conditions

Hypogonadism(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Infantile cataract(parent)

Congenital hereditary muscular dystrophy(parent)

Chronic disorder of genitourinary system(parent)

Quick Facts

SNOMED CT: 715429006
UMLS CUI: C2931578
Fully Specified Name: Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.