MCID: MCR280
MIFTS: 4

Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Short Stature-Intellectual Disability-Facial...

MalaCards integrated aliases for Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome:

Name: Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA423306
ICD10 via Orphanet 34 Q87.1

Summaries for Microcephaly-Short Stature-Intellectual Disability-Facial...

MalaCards based summary : Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome An important gene associated with Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome is QARS (Glutaminyl-TRNA Synthetase).

Related Diseases for Microcephaly-Short Stature-Intellectual Disability-Facial...

Symptoms & Phenotypes for Microcephaly-Short Stature-Intellectual Disability-Facial...

Drugs & Therapeutics for Microcephaly-Short Stature-Intellectual Disability-Facial...

Search Clinical Trials , NIH Clinical Center for Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome

Genetic Tests for Microcephaly-Short Stature-Intellectual Disability-Facial...

Anatomical Context for Microcephaly-Short Stature-Intellectual Disability-Facial...

Publications for Microcephaly-Short Stature-Intellectual Disability-Facial...

Variations for Microcephaly-Short Stature-Intellectual Disability-Facial...

Expression for Microcephaly-Short Stature-Intellectual Disability-Facial...

Search GEO for disease gene expression data for Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome.

Pathways for Microcephaly-Short Stature-Intellectual Disability-Facial...

GO Terms for Microcephaly-Short Stature-Intellectual Disability-Facial...

Sources for Microcephaly-Short Stature-Intellectual Disability-Facial...

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
Content
Loading form....