MCID: MCR358
MIFTS: 13

Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Corpus Callosum and Cerebellar Vermis...

MalaCards integrated aliases for Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom:

Name: Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly-Corpus Callosum and Cerebellar Vermis...

MalaCards based summary : Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom An important gene associated with Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom is RAC1 (Rac Family Small GTPase 1). Affiliated tissues include heart, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Symptoms & Phenotypes for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Human phenotypes related to Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
6 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
7 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
8 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
11 seizure 31 frequent (33%) HP:0001250
12 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
15 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
16 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
17 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
18 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
20 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
21 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
22 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
23 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
24 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
25 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
26 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
27 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
28 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
29 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
30 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
31 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
32 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
33 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
34 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
35 abnormality of earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000363
36 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
37 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
38 tracheobronchomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002786
39 short 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009237
40 acromesomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003086
41 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280
42 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
43 cerebellar dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007033
44 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
45 low hanging columella 58 31 occasional (7.5%) Occasional (29-5%) HP:0009765
46 abnormal size of the palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0200007
47 moderately reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0030515
48 seizures 58 Frequent (79-30%)
49 sensorineural hearing impairment 58 Occasional (29-5%)
50 feeding difficulties 58 Frequent (79-30%)

Drugs & Therapeutics for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Search Clinical Trials , NIH Clinical Center for Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom

Genetic Tests for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Anatomical Context for Microcephaly-Corpus Callosum and Cerebellar Vermis...

MalaCards organs/tissues related to Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom:

40
Heart

Publications for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Variations for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Expression for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Search GEO for disease gene expression data for Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom.

Pathways for Microcephaly-Corpus Callosum and Cerebellar Vermis...

GO Terms for Microcephaly-Corpus Callosum and Cerebellar Vermis...

Sources for Microcephaly-Corpus Callosum and Cerebellar Vermis...

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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