MCID: CRN290
MIFTS: 7

Cranial Nerves, Congenital Paresis of

Categories: Neuronal diseases

Aliases & Classifications for Cranial Nerves, Congenital Paresis of

MalaCards integrated aliases for Cranial Nerves, Congenital Paresis of:

Name: Cranial Nerves, Congenital Paresis of 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cranial nerves, congenital paresis of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 218100
MedGen 43 C1857531

Summaries for Cranial Nerves, Congenital Paresis of

MalaCards based summary : Cranial Nerves, Congenital Paresis of Related phenotypes are facial palsy and abnormality of the pinna

Description from OMIM: 218100

Related Diseases for Cranial Nerves, Congenital Paresis of

Diseases in the Cranial Nerves, Recurrent Paresis of family:

Cranial Nerves, Congenital Paresis of

Symptoms & Phenotypes for Cranial Nerves, Congenital Paresis of

Human phenotypes related to Cranial Nerves, Congenital Paresis of:

33
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 HP:0010628
2 abnormality of the pinna 33 HP:0000377

Symptoms via clinical synopsis from OMIM:

58
Neuro:
facial palsy
cranial nerve paresis
cranial nerve iii, iv and vii weakness

Ears:
malformed external ears

Clinical features from OMIM:

218100

Drugs & Therapeutics for Cranial Nerves, Congenital Paresis of

Search Clinical Trials , NIH Clinical Center for Cranial Nerves, Congenital Paresis of

Genetic Tests for Cranial Nerves, Congenital Paresis of

Anatomical Context for Cranial Nerves, Congenital Paresis of

Publications for Cranial Nerves, Congenital Paresis of

Variations for Cranial Nerves, Congenital Paresis of

Expression for Cranial Nerves, Congenital Paresis of

Search GEO for disease gene expression data for Cranial Nerves, Congenital Paresis of.

Pathways for Cranial Nerves, Congenital Paresis of

GO Terms for Cranial Nerves, Congenital Paresis of

Sources for Cranial Nerves, Congenital Paresis of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....