MCID: PRT098
MIFTS: 6

Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

MalaCards integrated aliases for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome:

Name: Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA401959
ICD10 via Orphanet 34 Q04.3

Summaries for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

MalaCards based summary : Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome An important gene associated with Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome is KPNA7 (Karyopherin Subunit Alpha 7). Affiliated tissues include brain.

Related Diseases for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Symptoms & Phenotypes for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Drugs & Therapeutics for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Search Clinical Trials , NIH Clinical Center for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome

Genetic Tests for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Anatomical Context for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

MalaCards organs/tissues related to Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome:

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Brain

Publications for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Variations for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Expression for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Search GEO for disease gene expression data for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome.

Pathways for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

GO Terms for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

Sources for Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia...

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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