MCID: MCR280
MIFTS: 5

Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome

Categories: Fetal diseases, Neuronal 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 58

Characteristics:

Orphanet epidemiological data:

58
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA423306

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 EPRS1 (Glutamyl-Prolyl-TRNA Synthetase 1).

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...

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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 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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