MCID: MCR186
MIFTS: 13

Microtriplication 11q24.1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Microtriplication 11q24.1

Summaries for Microtriplication 11q24.1

MalaCards based summary : Microtriplication 11q24.1, is also known as tetrasomy 11q24.1. Related phenotypes are hypertelorism and joint dislocation

Related Diseases for Microtriplication 11q24.1

Symptoms & Phenotypes for Microtriplication 11q24.1

Human phenotypes related to Microtriplication 11q24.1:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
3 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
4 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
5 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
8 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
9 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
11 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
12 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
13 metatarsus adductus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001840
14 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
15 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
16 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
17 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
18 hyperlipidemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003077
19 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
20 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
21 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
22 keratoconus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000563
23 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
24 hyperkinesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002487
25 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
26 speech apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011098
27 attached earlobe 60 33 hallmark (90%) Very frequent (99-80%) HP:0009907
28 broad chin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011822
29 bruxism 60 33 hallmark (90%) Very frequent (99-80%) HP:0003763
30 irregularly spaced teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006316
31 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
32 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
33 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
34 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
35 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
36 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
37 retrocerebellar cyst 60 33 frequent (33%) Frequent (79-30%) HP:0006951
38 seizures 60 Excluded (0%)
39 abnormal facial shape 60 Very frequent (99-80%)

Drugs & Therapeutics for Microtriplication 11q24.1

Search Clinical Trials , NIH Clinical Center for Microtriplication 11q24.1

Genetic Tests for Microtriplication 11q24.1

Anatomical Context for Microtriplication 11q24.1

Publications for Microtriplication 11q24.1

Variations for Microtriplication 11q24.1

Expression for Microtriplication 11q24.1

Search GEO for disease gene expression data for Microtriplication 11q24.1.

Pathways for Microtriplication 11q24.1

GO Terms for Microtriplication 11q24.1

Sources for Microtriplication 11q24.1

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
51 NCIt
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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