15q14 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Del(15)(q14)
Monosomy 15q14
Number of Symptoms 27
OrphanetNr: 261190
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 15
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
4
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
5
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
6
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
7
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
8
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
9
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
11
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
12
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
13
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
14
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
17
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
18
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
19
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0001061) Acne Occasional [Orphanet] 33 / 7739
22
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
23
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
24
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
25
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
26
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
27
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: