MCID: MCR361
MIFTS: 12

Microcephaly 21, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Microcephaly 21, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 21, Primary, Autosomal Recessive:

Name: Microcephaly 21, Primary, Autosomal Recessive 57 6
Mcph21 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one boy of indian descent has been reported (last curated may 2018)


Classifications:



External Ids:

OMIM 57 617983

Summaries for Microcephaly 21, Primary, Autosomal Recessive

MalaCards based summary : Microcephaly 21, Primary, Autosomal Recessive, is also known as mcph21. An important gene associated with Microcephaly 21, Primary, Autosomal Recessive is NCAPD2 (Non-SMC Condensin I Complex Subunit D2).

Description from OMIM: 617983

Symptoms & Phenotypes for Microcephaly 21, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Head:
microcephaly (up to -11 sd)

Neurologic Central Nervous System:
intellectual disability, moderate
absent speech

Growth Other:
poor overall growth

Head And Neck Face:
sloping forehead

Neurologic Behavioral Psychiatric Manifestations:
autistic features


Clinical features from OMIM:

617983

Drugs & Therapeutics for Microcephaly 21, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 21, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 21, Primary, Autosomal Recessive

Anatomical Context for Microcephaly 21, Primary, Autosomal Recessive

Publications for Microcephaly 21, Primary, Autosomal Recessive

Variations for Microcephaly 21, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 21, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCAPD2 NM_014865.3(NCAPD2): c.4120+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 12, 6640244: 6640244
2 NCAPD2 NM_014865.3(NCAPD2): c.4120+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 12, 6531078: 6531078

Expression for Microcephaly 21, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 21, Primary, Autosomal Recessive.

Pathways for Microcephaly 21, Primary, Autosomal Recessive

GO Terms for Microcephaly 21, Primary, Autosomal Recessive

Sources for Microcephaly 21, Primary, Autosomal Recessive

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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