3q29 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: 3qter deletion
3q subtelomere deletion syndrome
Del(3)(q29)
Monosomy 3qter
Monosomy 3q29
MICRODELETION 3q29 SYNDROME
Number of Symptoms 60
OrphanetNr: 65286
OMIM Id: 609425
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000275) Narrow face Occasional [Orphanet] 15918153 IBIS 76 / 7739
5
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 15918153 IBIS 121 / 7739
6
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
7
 (HPO:0000276) Long face Occasional [Orphanet] 15918153 IBIS 109 / 7739
8
 (HPO:0000252) Microcephaly Frequent [Orphanet] 15918153 IBIS 832 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
10
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
11
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
12
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
13
 (HPO:0000322) Short philtrum Frequent [Orphanet] 15918153 IBIS 130 / 7739
14
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
15
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
16
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
18
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
19
 (HPO:0000369) Low-set ears 372 / 7739
20
 (HPO:0000400) Macrotia 108 / 7739
21
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
24
 (HPO:0001263) Global developmental delay 15918153 IBIS 853 / 7739
25
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
26
 (HPO:0002066) Gait ataxia 15918153 IBIS 327 / 7739
27
 (HPO:0000717) Autism Occasional [Orphanet] 15918153 IBIS 108 / 7739
28
 (HPO:0000718) Aggressive behavior 109 / 7739
29
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
30
 (HPO:0000733) Stereotypy 15918153 IBIS 58 / 7739
31
 (HPO:0000709) Psychosis 61 / 7739
32
 (HPO:0000739) Anxiety 67 / 7739
33
 (HPO:0001249) Intellectual disability 15918153 IBIS 1089 / 7739
34
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
35
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
36
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 15918153 IBIS 244 / 7739
37
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
38
 (HPO:0001182) Tapered finger Occasional [Orphanet] 15918153 IBIS 93 / 7739
39
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 15918153 IBIS 136 / 7739
40
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 15918153 IBIS 288 / 7739
41
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
42
 (HPO:0001518) Small for gestational age 107 / 7739
43
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
44
 (HPO:0001508) Failure to thrive 454 / 7739
45
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
46
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
47
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
48
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
49
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
50
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
51
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
52
 (HPO:0003745) Sporadic 131 / 7739
53
 (OMIM) Mental retardation, mild to moderate 33 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
57
 (MedDRA:10058668) Clinodactyly 91 / 7739
58
 (OMIM) Subtelomeric deletion of long arm of chromosome 3 (3q29) 1 / 7739
59
 (OMIM) Long tapered fingers 3 / 7739
60
 (OMIM) Long narrow face 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Willatt et al. (2005) reported the identification of 6 patients with 3q29 microdeletion syndrome. The clinical phenotype was variable despite an almost identical deletion size. The phenotype included mild to moderate mental retardation, with only slightly dysmorphic facial ...
Molecular genetics OMIM The microdeletion in the patients studied by Willatt et al. (2005) was approximately 1.5 Mb, with molecular boundaries mapping within the same or adjacent BAC clones at either end of the deletion in all patients. The deletion encompassed ...