MCID: MBS006
MIFTS: 13

Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome

Categories: Neuronal diseases, Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

MalaCards integrated aliases for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome:

Name: Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

MalaCards based summary : Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome and has symptoms including hypogonadotrophic hypogonadism, movement abnormality of the tongue and mask-like facies. Affiliated tissues include tongue.

Related Diseases for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Symptoms & Phenotypes for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Human phenotypes related to Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
2 movement abnormality of the tongue 55 31 hallmark (90%) Very frequent (99-80%) HP:0000182
3 mask-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000298
4 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
5 external ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000544
6 abnormality of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0001167
7 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 bilateral talipes equinovarus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001776
9 intellectual disability, moderate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002342
10 inability to walk 55 31 hallmark (90%) Very frequent (99-80%) HP:0002540
11 peripheral axonal neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003477
12 demyelinating peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0007108
13 facial paralysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0007209
14 decreased corneal reflex 55 31 hallmark (90%) Very frequent (99-80%) HP:0008000
15 abnormality of jaw muscles 55 31 hallmark (90%) Very frequent (99-80%) HP:0045037

Drugs & Therapeutics for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Search Clinical Trials , NIH Clinical Center for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome

Genetic Tests for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Anatomical Context for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

MalaCards organs/tissues related to Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome:

38
Tongue

Publications for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Variations for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Expression for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Search GEO for disease gene expression data for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome.

Pathways for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

GO Terms for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

Sources for Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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