MCID: 14Q001
MIFTS: 17

14q12 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q12 Microdeletion Syndrome

Summaries for 14q12 Microdeletion Syndrome

MalaCards based summary : 14q12 Microdeletion Syndrome, also known as monosomy 14q12, is related to rett syndrome, and has symptoms including macroglossia, everted lower lip vermilion and microcephaly. An important gene associated with 14q12 Microdeletion Syndrome is FOXG1 (Forkhead Box G1).

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 10.0

Symptoms & Phenotypes for 14q12 Microdeletion Syndrome

Human phenotypes related to 14q12 Microdeletion Syndrome:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
2 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
3 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
5 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
6 smooth philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000319
7 protruding ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0000411
8 bulbous nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000414
9 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
10 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
11 stereotypy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000733
12 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
13 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
14 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
15 absent speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001344
16 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
17 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
18 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
19 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
20 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
21 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
22 excessive salivation 55 31 frequent (33%) Frequent (79-30%) HP:0003781
23 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
24 prominent metopic ridge 55 31 frequent (33%) Frequent (79-30%) HP:0005487
25 abnormality of the antihelix 55 31 hallmark (90%) Very frequent (99-80%) HP:0009738
26 tented upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0010804
27 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
28 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
29 palpebral edema 55 31 frequent (33%) Frequent (79-30%) HP:0100540

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 Year
1
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. ( 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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