MCID: CRP036
MIFTS: 14

Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome

Categories: Bone diseases, Genetic 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 54
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 12 54
Mental Retardation, X-Linked, Syndromic 28 12 54
Graham-Cox Syndrome 12 54
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 74
Agenesis of the Corpus Callosum-Intellectual Disability-Coloboma-Micrognathia Syndrome 54
Mrxs28 12

Classifications:



Summaries for Corpus Callosum Agenesis-Intellectual...

NIH Rare Diseases : 54 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 11.8

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

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

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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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