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MCID: 14Q001
MIFTS: 17

14q12 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases
Genes Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for 14q12 Microdeletion Syndrome

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MalaCards integrated aliases for 14q12 Microdeletion Syndrome:

Name: 14q12 Microdeletion Syndrome 60
Monosomy 14q12 60
Del(14)(q12) 60

Characteristics:

Orphanet epidemiological data:

60
14q12 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Developmental anomalies during embryogenesis


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Summaries for 14q12 Microdeletion Syndrome

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MalaCards based summary : 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to rett syndrome. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1). Related phenotypes are muscular hypotonia and developmental regression

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Related Diseases for 14q12 Microdeletion Syndrome

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Diseases related to 14q12 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rett syndrome 10.2

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Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

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Human phenotypes related to 14q12 Microdeletion Syndrome:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
6 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
7 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
8 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
9 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
10 absent speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001344
11 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
12 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
13 abnormality of the antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0009738
14 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
15 tented upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0010804
16 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
17 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
18 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
19 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
20 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
21 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
22 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
23 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
24 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
25 palpebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0100540
26 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
27 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
28 prominent metopic ridge 60 33 frequent (33%) Frequent (79-30%) HP:0005487
29 excessive salivation 60 33 frequent (33%) Frequent (79-30%) HP:0003781
Sources

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

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Search Clinical Trials , NIH Clinical Center for 14q12 Microdeletion Syndrome

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Genetic Tests for 14q12 Microdeletion Syndrome

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Anatomical Context for 14q12 Microdeletion Syndrome

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Publications for 14q12 Microdeletion Syndrome

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Articles related to 14q12 Microdeletion Syndrome:

# Title Authors Year
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. ( 19303466 )
2009
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Variations for 14q12 Microdeletion Syndrome

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Expression for 14q12 Microdeletion Syndrome

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Search GEO for disease gene expression data for 14q12 Microdeletion Syndrome.
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Pathways for 14q12 Microdeletion Syndrome

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GO Terms for 14q12 Microdeletion Syndrome

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Sources for 14q12 Microdeletion Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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