Distal trisomy 18q

General Information (adopted from Orphanet):

Synonyms, Signs: Distal duplication 18q
Trisomy 18qter
Telomeric duplication 18q
Number of Symptoms 31
OrphanetNr: 1716
OMIM Id:
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial trisomy of the long arm of chromosome 18
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
3
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
4
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
7
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
8
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
9
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
12
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
13
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
14
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
15
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
16
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
17
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
18
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
19
 (HPO:0001176) Large hands Occasional [Orphanet] 43 / 7739
20
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
21
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
22
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
23
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
24
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
25
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
28
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
29
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
31
 (HPO:0012815) Hypoplastic female external genitalia Occasional [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: