MCID: NRD064
MIFTS: 8

Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

MalaCards integrated aliases for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion:

Name: Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 60
9q21.3 Microdeletion Syndrome 60
Del(9)(q21.3) 60

Characteristics:

Orphanet epidemiological data:

60
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA352665

Summaries for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

MalaCards based summary : Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion, is also known as 9q21.3 microdeletion syndrome. An important gene associated with Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include bone.

Related Diseases for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Symptoms & Phenotypes for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Drugs & Therapeutics for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion

Genetic Tests for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Anatomical Context for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

MalaCards organs/tissues related to Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion:

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Bone

Publications for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Variations for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Expression for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Search GEO for disease gene expression data for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion.

Pathways for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

GO Terms for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

Sources for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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