3q29 microduplication

General Information (adopted from Orphanet):

Synonyms, Signs: MICRODUPLICATION 3q29 SYNDROME
Trisomy 3q29
Number of Symptoms 46
OrphanetNr: 251038
OMIM Id: 611936
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 3
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001090) Large eyes 20 / 7739
2
 (HPO:0000276) Long face 1/4 [HPO] 18241066 IBIS 109 / 7739
3
 (HPO:0000311) Round face 3/4 [HPO] 18241066 IBIS 104 / 7739
4
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
5
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 4/5 [HPO] 18241066 IBIS 832 / 7739
7
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
8
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
9
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 1/5 [HPO] 18241066 IBIS 298 / 7739
10
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
11
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
12
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 1/4 [HPO] 18241066 IBIS 290 / 7739
13
 (HPO:0000581) Blepharophimosis 1/4 [HPO] 18241066 IBIS 197 / 7739
14
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 1/4 [HPO] 18241066 IBIS 328 / 7739
16
 (HPO:0002162) Low posterior hairline 1/4 [HPO] 18241066 IBIS 88 / 7739
17
 (HPO:0000414) Bulbous nose 3/4 [HPO] 18241066 IBIS 63 / 7739
18
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
19
 (HPO:0002002) Deep philtrum Occasional [Orphanet] 42 / 7739
20
 (HPO:0003196) Short nose 2/4 [HPO] 18241066 IBIS 264 / 7739
21
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
22
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
23
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
24
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
25
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
26
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
27
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0001249) Intellectual disability 3/4 [HPO] 18241066 IBIS 1089 / 7739
31
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
32
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
33
 (HPO:0001763) Pes planus 2/4 [HPO] 18241066 IBIS 176 / 7739
34
 (HPO:0006114) Multiple palmar creases 2/4 [HPO] 18241066 IBIS 3 / 7739
35
 (HPO:0001836) Camptodactyly of toe Occasional [Orphanet] 27 / 7739
36
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
37
 (HPO:0001513) Obesity Frequent [Orphanet] 3/5 [HPO] 18241066 IBIS 172 / 7739
38
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
39
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
41
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
 (OMIM) Excessive hand creases 1 / 7739
43
 (HPO:0012745) Short palpebral fissure 47 / 7739
44
 (OMIM) Mental retardation, mild to moderate 33 / 7739
45
 (OMIM) 1.61- and 1.76-Mb microduplication of 3q29 1 / 7739
46
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lisi et al. (2008) reported a 3-generation family in which 5 members had mild to moderate mental retardation and minor dysmorphic features associated with an interstitial microduplication of chromosome 3q29. Clinical features included microcephaly, round face, bulbous nose, ...