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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 59
Monosomy 14q12 59
Del(14)(q12) 59

Characteristics:

Orphanet epidemiological data:

59
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: 34
Orphanet: 59  
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 macroglossia and everted lower lip vermilion

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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 10.0

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Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

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Human phenotypes related to 14q12 Microdeletion Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
2 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
5 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
6 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
7 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
8 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
9 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
10 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
11 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
12 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
13 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
14 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
15 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
16 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
17 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
18 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
19 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
20 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
21 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
22 excessive salivation 59 32 frequent (33%) Frequent (79-30%) HP:0003781
23 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
24 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
25 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
26 tented upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0010804
27 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
28 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
29 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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