Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome

disorder

SNOMED 724174003CUI C2931024

Overview

Moebius syndrome, axonal neuropathy, hypogonadotropic 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.

Abnormalities of the fingers

Very frequent (80-99%)HP:0001167

Abnormality of jaw muscles

Very frequent (80-99%)HP:0045037

Bilateral clubfeet

Very frequent (80-99%)HP:0001776

CPEO

Very frequent (80-99%)HP:0000544

Demyelinating peripheral neuropathy

Very frequent (80-99%)HP:0007108

Facial paresis

Very frequent (80-99%)HP:0007209

Inability to walk

Very frequent (80-99%)HP:0002540

Isolated hypogonadotropic hypogonadism

Very frequent (80-99%)HP:0000044

Mask-like facies

Very frequent (80-99%)HP:0000298

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Movement abnormality of the tongue

Very frequent (80-99%)HP:0000182

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Reduced corneal reflex

Very frequent (80-99%)HP:0008000

Squint

Very frequent (80-99%)HP:0000486

Related Conditions

Peripheral axonal neuropathy(parent)

Congenital facial nerve palsy(parent)

Congenital hypogonadotropic hypogonadism(parent)

Quick Facts

SNOMED CT: 724174003
UMLS CUI: C2931024
Fully Specified Name: Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.