MCID: NRD064
MIFTS: 18

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 58
9q21.3 Microdeletion Syndrome 58
Del(9)(q21.3) 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare bone diseases
Developmental anomalies during embryogenesis


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 tongue and heart, and related phenotypes are long palpebral fissure and hypotonia

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

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

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

58 31 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
2 hypotonia 31 hallmark (90%) HP:0001252
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
5 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
6 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
10 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
11 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
12 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
13 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
14 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
15 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
16 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
17 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
18 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
19 increased nuchal translucency 58 31 frequent (33%) Frequent (79-30%) HP:0010880
20 gray matter heterotopia 58 31 frequent (33%) Frequent (79-30%) HP:0002282
21 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
22 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
23 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
24 bruxism 58 31 frequent (33%) Frequent (79-30%) HP:0003763
25 exaggerated median tongue furrow 58 31 frequent (33%) Frequent (79-30%) HP:0002711
26 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
27 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
28 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
29 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
30 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
31 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
32 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
33 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
34 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
35 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
36 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
37 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
38 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
39 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
40 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
41 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
42 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
43 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
44 type 1 muscle fiber atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011807
45 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
46 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
47 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
48 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
49 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
50 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411

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:

40
Tongue, Heart

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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