Non-distal trisomy 13q

General Information (adopted from Orphanet):

Synonyms, Signs: Non-distal duplication 13q
Non-telomeric trisomy 13q
Number of Symptoms 27
OrphanetNr: 1702
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 duplication of the long arm of chromosome 13
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
3
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
4
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
5
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
6
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
7
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
8
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
9
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
10
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
11
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
12
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
13
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
14
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
15
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
16
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
17
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
18
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
19
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
20
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
21
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
22
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
23
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
24
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
25
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
27
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: