MCID: MBS006
MIFTS: 13

Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome

Categories: Reproductive diseases, Endocrine diseases, Rare diseases, Neuronal 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 59

Characteristics:

Orphanet epidemiological data:

59
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 Affiliated tissues include tongue, and related phenotypes are hypogonadotrophic hypogonadism and movement abnormality of the 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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
2 movement abnormality of the tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0000182
3 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
4 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
5 external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000544
6 abnormality of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001167
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 bilateral talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001776
9 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
10 inability to walk 59 32 hallmark (90%) Very frequent (99-80%) HP:0002540
11 peripheral axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003477
12 demyelinating peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007108
13 facial paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007209
14 decreased corneal reflex 59 32 hallmark (90%) Very frequent (99-80%) HP:0008000
15 abnormality of jaw muscles 59 32 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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