Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Summary

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome (MONDO:0016819) is a disease. A subtype of Mobius syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 15

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		7	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0000044	Hypogonadotropic hypogonadism	Very frequent (80-99%)
HP:0000182	Movement abnormality of the tongue	Very frequent (80-99%)
HP:0000298	Mask-like facies	Very frequent (80-99%)
HP:0000486	Strabismus	Very frequent (80-99%)
HP:0000544	External ophthalmoplegia	Very frequent (80-99%)
HP:0001167	Abnormality of finger	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0001776	Bilateral talipes equinovarus	Very frequent (80-99%)
HP:0002342	Intellectual disability, moderate	Very frequent (80-99%)
HP:0002540	Inability to walk	Very frequent (80-99%)
HP:0003477	Peripheral axonal neuropathy	Very frequent (80-99%)
HP:0007108	Demyelinating peripheral neuropathy	Very frequent (80-99%)
HP:0007209	Facial paralysis	Very frequent (80-99%)
HP:0008000	Decreased corneal reflex	Very frequent (80-99%)
HP:0045037	Abnormality of jaw muscles	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Mondo ID	MONDO:0016819
MeSH	C535806
Orphanet	2560
UMLS	C2931024
MedGen	419697
GARD	0003698
Is cancer (heuristic)	no

Also known as: Moebius axonal neuropathy hypogonadism · Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type

Disease family

This is a subtype of Mobius syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › cranial nerve neuropathy › facial nerve disorder › Mobius syndrome › Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.