CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 613603
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000276) Long face 109 / 7739
2
(HPO:0000308) Microretrognathia 78 / 7739
3
(HPO:0000322) Short philtrum 130 / 7739
4
(HPO:0002007) Frontal bossing 366 / 7739
5
(HPO:0003196) Short nose 264 / 7739
6
(HPO:0000286) Epicanthus 371 / 7739
7
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
(HPO:0000431) Wide nasal bridge 290 / 7739
9
(HPO:0000256) Macrocephaly 298 / 7739
10
(HPO:0000508) Ptosis 459 / 7739
11
(HPO:0000369) Low-set ears 372 / 7739
12
(HPO:0000377) Abnormality of the pinna 111 / 7739
13
(HPO:0008551) Microtia 98 / 7739
14
(HPO:0001263) Global developmental delay 853 / 7739
15
(HPO:0002251) Aganglionic megacolon 78 / 7739
16
(HPO:0002019) Constipation 194 / 7739
17
(OMIM) Hypoplastic zygoma 1 / 7739
18
(OMIM) Squared-off ears 1 / 7739
19
(OMIM) Small palpebral fissures 6 / 7739
20
(OMIM) [DEL]Autistic features 43 / 7739
21
(HPO:0000238) Hydrocephalus 278 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(HPO:0045025) Narrow palpebral fissure 8 / 7739
24
(OMIM) Speech abnormalities 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (2009) reported a mother and her 3 sons who all had a 4.3-Mb triplication of chromosome 4q32.1-q32.2 associated with delayed psychomotor development and variable mental retardation. Common dysmorphic features included macrocephaly, a long midface, hypoplastic ...