MCID: NRD020
MIFTS: 8

Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion

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

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

MalaCards integrated aliases for Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion:

Name: Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 59
9q21 Microdeletion Syndrome 59
Del(9)(q21) 59

Characteristics:

Orphanet epidemiological data:

59
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA352665
ICD10 via Orphanet 34 Q93.5

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

MalaCards based summary : Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion, is also known as 9q21 microdeletion syndrome. An important gene associated with Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 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-Hip Dysplasia Syndrome Due to 9q21 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-Hip Dysplasia Syndrome Due to 9q21 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-Hip Dysplasia Syndrome Due to 9q21 Microdeletion.

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

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

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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