MCID: 14Q001
MIFTS: 14

14q12 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

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:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA261144

Summaries for 14q12 Microdeletion Syndrome

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

Related Diseases for 14q12 Microdeletion Syndrome

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
2 hypertelorism 10.2
3 hypothyroidism 10.2
4 microcephaly 10.2

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

Human phenotypes related to 14q12 Microdeletion Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
6 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
7 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
8 tented upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0010804
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
11 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
12 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
13 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
14 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
15 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
16 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
17 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
18 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
19 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
20 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
21 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
22 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
23 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
24 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
25 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
26 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
27 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
28 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
29 excessive salivation 59 32 frequent (33%) Frequent (79-30%) HP:0003781

Drugs & Therapeutics for 14q12 Microdeletion Syndrome

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

Genetic Tests for 14q12 Microdeletion Syndrome

Anatomical Context for 14q12 Microdeletion Syndrome

Publications for 14q12 Microdeletion Syndrome

Articles related to 14q12 Microdeletion Syndrome:

# Title Authors PMID Year
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. 38
19303466 2009

Variations for 14q12 Microdeletion Syndrome

Expression for 14q12 Microdeletion Syndrome

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

Pathways for 14q12 Microdeletion Syndrome

GO Terms for 14q12 Microdeletion Syndrome

Sources for 14q12 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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