MCID: CRN290
MIFTS: 8

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cranial nerves, congenital paresis of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 218100
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
facial palsy
cranial nerve paresis
cranial nerve iii, iv and vii weakness

Ears:
malformed external ears


Clinical features from OMIM:

218100

Human phenotypes related to Cranial Nerves, Congenital Paresis of:

32
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 abnormality of the pinna 32 HP:0000377

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 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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