46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

disorder

SNOMED 783091003CUI C5190810

Overview

46,XY gonadal dysgenesis, motor and sensory neuropathy 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.

Abnormal female external genitalia

Very frequent (80-99%)HP:0000055

Abnormal peripheral myelination

Very frequent (80-99%)HP:0003130

Abnormal peripheral nerve morphology by anatomical site

Very frequent (80-99%)HP:0045010

Abnormal peripheral nerve transmission

Very frequent (80-99%)HP:0003134

Abnormal vagina morphology

Very frequent (80-99%)HP:0000142

Decreased function of male gonad

Very frequent (80-99%)HP:0000026

Decreased serum estradiol

Very frequent (80-99%)HP:0008214

Decreased testosterone

Very frequent (80-99%)HP:0040171

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Distal limb muscle weakness due to peripheral neuropathy

Very frequent (80-99%)HP:0002460

Distal sensory impairment of all modalities

Very frequent (80-99%)HP:0003409

Dysplastic testes

Very frequent (80-99%)HP:0008733

Gonadal dysgenesis

Very frequent (80-99%)HP:0000133

Gonadotropin excess

Very frequent (80-99%)HP:0000837

Infertility

Very frequent (80-99%)HP:0000789

Muscle degeneration

Very frequent (80-99%)HP:0003202

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Peripheral nerve disease

Very frequent (80-99%)HP:0001271

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Sensory ataxic neuropathy

Very frequent (80-99%)HP:0003434

Streak ovary

Very frequent (80-99%)HP:0010464

Underdeveloped uterus

Very frequent (80-99%)HP:0000013

Xy female gonadal dysgenesis

Very frequent (80-99%)HP:0008723

Gonadoblastoma

Occasional (5-29%)HP:0000150

Pes cavus

Occasional (5-29%)HP:0001761

Steppage gait

Occasional (5-29%)HP:0003376

Related Conditions

Reproductive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Gonadal dysgenesis(parent)

Hereditary disorder of nervous system(parent)

Mixed sensory-motor polyneuropathy(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 783091003
UMLS CUI: C5190810
Fully Specified Name: 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.