MCID: CRP029
MIFTS: 9

Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

MalaCards integrated aliases for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome:

Name: Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 58
7q36.3 Microduplication Syndrome 58
Dup(7)(q36.3) 58

Characteristics:

Orphanet epidemiological data:

58
corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.0
Orphanet 58 ORPHA459074

Summaries for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

MalaCards based summary : Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome, is also known as 7q36.3 microduplication syndrome. Affiliated tissues include brain, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Symptoms & Phenotypes for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Human phenotypes related to Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome:

58 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 Very frequent (99-80%)
2 hypertelorism 58 Frequent (79-30%)
3 agenesis of corpus callosum 58 Very frequent (99-80%)
4 arnold-chiari type i malformation 58 Frequent (79-30%)
5 intellectual disability, mild 58 Frequent (79-30%)
6 broad forehead 58 Very frequent (99-80%)
7 generalized-onset seizure 58 Occasional (29-5%)
8 facial asymmetry 58 Occasional (29-5%)
9 intellectual disability, borderline 58 Occasional (29-5%)
10 plagiocephaly 58 Frequent (79-30%)

Drugs & Therapeutics for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Search Clinical Trials , NIH Clinical Center for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Genetic Tests for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Anatomical Context for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

MalaCards organs/tissues related to Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome:

40
Brain

Publications for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Variations for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Expression for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Search GEO for disease gene expression data for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome.

Pathways for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

GO Terms for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

Sources for Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....