MCID: MCR340
MIFTS: 15

Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Categories: Rare diseases

Aliases & Classifications for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

MalaCards integrated aliases for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate:

Name: Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 56
Corpus Callosum Dysgenesis, Microcephaly, Infantile Spasm, Cleft Lip-Palate, Exophthalmos and Psychomotor Retardation 52
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 52
Microcephaly, Facial Clefting, and Preaxial Polydactyly 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephaly, corpus callosum dysgenesis, and cleft lip/palate:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

MalaCards based summary : Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate, also known as corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation, is related to microcephaly and cleft lip. Related phenotypes are seizures and global developmental delay

More information from OMIM: 601420

Related Diseases for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Diseases related to Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.7
2 cleft lip 10.7
3 exophthalmos 10.7
4 cleft lip/palate 10.7
5 polydactyly 10.6
6 nipples, supernumerary 10.4

Graphical network of the top 20 diseases related to Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate:



Diseases related to Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Symptoms & Phenotypes for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Human phenotypes related to Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 cleft palate 31 HP:0000175
5 proptosis 31 HP:0000520
6 cleft upper lip 31 HP:0000204
7 preaxial hand polydactyly 31 HP:0001177
8 hypoplasia of the corpus callosum 31 HP:0002079
9 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
psychomotor retardation
hypoplasia of corpus callosum

Limbs:
preaxial polydactyly

Eyes:
exophthalmos

Head:
microcephaly

Mouth:
cleft lip/palate

Clinical features from OMIM:

601420

Drugs & Therapeutics for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Search Clinical Trials , NIH Clinical Center for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Genetic Tests for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Anatomical Context for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Publications for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Articles related to Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate:

# Title Authors PMID Year
1
Another case of microcephaly, facial clefting, and preaxial polydactyly. 61 56
2231655 1990
2
Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly. 61 56
3367355 1988
3
A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation. 56
8828990 1996
4
Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome. 61
11045592 2000

Variations for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Expression for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Search GEO for disease gene expression data for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate.

Pathways for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

GO Terms for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

Sources for Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate

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
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