MCID: PRT098
MIFTS: 5

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

Categories: Fetal diseases, Neuronal 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 58

Characteristics:

Orphanet epidemiological data:

58
partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA401959

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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