MCID: CRP036
MIFTS: 19

Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome

Categories: Bone diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum Agenesis-Intellectual...

MalaCards integrated aliases for Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome:

Name: Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 12 53
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 12 53
Mental Retardation, X-Linked, Syndromic 28 12 53
Graham-Cox Syndrome 12 53
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 73
Agenesis of the Corpus Callosum-Intellectual Disability-Coloboma-Micrognathia Syndrome 53
Mrxs28 12

Classifications:



Summaries for Corpus Callosum Agenesis-Intellectual...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52055Disease definitionCorpus callosum agenesis-intellectual disability-coloboma-micrognathiasyndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.Visit the Orphanet disease page for more resources.

MalaCards based summary : Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome, also known as corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, is related to corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia. Affiliated tissues include bone, and related phenotypes are macrocephaly and low-set ears

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has material basis in mutation in the IGBP1 gene on chromosome Xq13.1.

Related Diseases for Corpus Callosum Agenesis-Intellectual...

Diseases related to Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 11.7

Symptoms & Phenotypes for Corpus Callosum Agenesis-Intellectual...

Human phenotypes related to Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 hallmark (90%) HP:0000256
2 low-set ears 32 hallmark (90%) HP:0000369
3 short neck 32 hallmark (90%) HP:0000470
4 pectus excavatum 32 hallmark (90%) HP:0000767
5 agenesis of corpus callosum 32 hallmark (90%) HP:0001274
6 high palate 32 frequent (33%) HP:0000218
7 nystagmus 32 hallmark (90%) HP:0000639
8 intellectual disability 32 hallmark (90%) HP:0001249
9 scoliosis 32 hallmark (90%) HP:0002650
10 sensorineural hearing impairment 32 hallmark (90%) HP:0000407
11 short stature 32 hallmark (90%) HP:0004322
12 cleft palate 32 frequent (33%) HP:0000175
13 retrognathia 32 hallmark (90%) HP:0000278
14 patent ductus arteriosus 32 frequent (33%) HP:0001643
15 prominent nasal bridge 32 frequent (33%) HP:0000426
16 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
17 choanal atresia 32 frequent (33%) HP:0000453
18 ventricular septal defect 32 frequent (33%) HP:0001629
19 high forehead 32 hallmark (90%) HP:0000348
20 iris coloboma 32 frequent (33%) HP:0000612
21 optic nerve coloboma 32 frequent (33%) HP:0000588
22 cupped ear 32 hallmark (90%) HP:0000378

Drugs & Therapeutics for Corpus Callosum Agenesis-Intellectual...

Search Clinical Trials , NIH Clinical Center for Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome

Genetic Tests for Corpus Callosum Agenesis-Intellectual...

Anatomical Context for Corpus Callosum Agenesis-Intellectual...

MalaCards organs/tissues related to Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome:

41
Bone

Publications for Corpus Callosum Agenesis-Intellectual...

Variations for Corpus Callosum Agenesis-Intellectual...

Expression for Corpus Callosum Agenesis-Intellectual...

Search GEO for disease gene expression data for Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome.

Pathways for Corpus Callosum Agenesis-Intellectual...

GO Terms for Corpus Callosum Agenesis-Intellectual...

Sources for Corpus Callosum Agenesis-Intellectual...

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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