Distal trisomy 15q

General Information (adopted from Orphanet):

Synonyms, Signs: Trisomy 15qter
Distal duplication 15q
Telomeric duplication 15q
Number of Symptoms 31
OrphanetNr: 1707
OMIM Id:
ICD-10: Q92.3
UMLs: C2931705
MeSH: C538036
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0005988) Congenital muscular torticollis Frequent [Orphanet] 11 / 7739
5
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
6
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
9
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
10
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
11
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
12
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
13
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
14
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
15
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
16
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
17
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
18
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
19
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
20
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
21
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
22
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
23
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
24
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
25
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
27
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
28
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
31
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: