MCID: CHR612
MIFTS: 19

Chromosome 15q14 Deletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 15q14 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q14 Deletion Syndrome:

Name: Chromosome 15q14 Deletion Syndrome 58
15q14 Microdeletion Syndrome 60
Monosomy 15q14 60
Del(15)(q14) 60

Characteristics:

Orphanet epidemiological data:

60
15q14 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
contiguous gene deletion syndrome


HPO:

33
chromosome 15q14 deletion syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 15q14 Deletion Syndrome

MalaCards based summary : Chromosome 15q14 Deletion Syndrome, is also known as 15q14 microdeletion syndrome. An important gene associated with Chromosome 15q14 Deletion Syndrome is DEL15Q14 (Chromosome 15q14 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

Description from OMIM: 616898

Related Diseases for Chromosome 15q14 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q14 Deletion Syndrome

Human phenotypes related to Chromosome 15q14 Deletion Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
8 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
9 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
10 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
11 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
12 narrow forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000341
13 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
14 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
15 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
16 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
17 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
18 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
19 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
20 immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002721
21 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
22 acne 60 33 occasional (7.5%) Occasional (29-5%) HP:0001061
23 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
24 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
25 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
26 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
27 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
28 convex nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000444
29 everted lower lip vermilion 33 HP:0000232
30 high forehead 33 HP:0000348
31 highly arched eyebrow 33 HP:0002553
32 tented upper lip vermilion 33 HP:0010804
33 posteriorly rotated ears 33 HP:0000358
34 cleft lip 33 HP:0410030

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability, variable

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Head And Neck Mouth:
cleft palate
cleft lip
everted lower lip
tented upper lip

Head And Neck Face:
short philtrum
high forehead

Head And Neck Eyes:
arched eyebrows

Clinical features from OMIM:

616898

Drugs & Therapeutics for Chromosome 15q14 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q14 Deletion Syndrome

Genetic Tests for Chromosome 15q14 Deletion Syndrome

Anatomical Context for Chromosome 15q14 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q14 Deletion Syndrome:

42
Eye

Publications for Chromosome 15q14 Deletion Syndrome

Variations for Chromosome 15q14 Deletion Syndrome

Expression for Chromosome 15q14 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q14 Deletion Syndrome.

Pathways for Chromosome 15q14 Deletion Syndrome

GO Terms for Chromosome 15q14 Deletion Syndrome

Sources for Chromosome 15q14 Deletion Syndrome

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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