3q13 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 3q13
Del(3)(q13)
Number of Symptoms 47
OrphanetNr: 1621
OMIM Id: 615433
ICD-10: Q93.5
UMLs: C2931338
MeSH: C536808
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: Partial deletion of the long arm of chromosome 3
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum 31 / 7739
2
 (HPO:0008734) Decreased testicular size 105 / 7739
3
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
6
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
7
 (HPO:0000322) Short philtrum 130 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
10
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
11
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
12
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] rare [HPO:skoehler] 644 / 7739
13
 (HPO:0001357) Plagiocephaly rare [HPO:skoehler] 106 / 7739
14
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
15
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
16
 (HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
17
 (HPO:0000268) Dolichocephaly rare [HPO:skoehler] 144 / 7739
18
 (HPO:0000218) High palate 356 / 7739
19
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
20
 (HPO:0001488) Bilateral ptosis 42 / 7739
21
 (HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
22
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
23
 (HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
24
 (HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
25
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
26
 (HPO:0000400) Macrotia rare [HPO:skoehler] 108 / 7739
27
 (HPO:0007018) Attention deficit hyperactivity disorder rare [HPO:skoehler] 56 / 7739
28
 (HPO:0000717) Autism rare [HPO:skoehler] 108 / 7739
29
 (HPO:0000750) Delayed speech and language development 197 / 7739
30
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
31
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
32
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
33
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
34
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
35
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
36
 (HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
37
 (OMIM) Hypotonicity 2 / 7739
38
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
39
 (OMIM) Postnatal overgrowth 1 / 7739
40
 (HPO:0006988) Alobar holoprosencephaly rare [HPO:skoehler] 2 / 7739
41
 (OMIM) Major developmental delay 1 / 7739
42
 (Orphanet:9200) Protruding lips 4 / 7739
43
 (OMIM) Prominent or broad forehead 1 / 7739
44
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
47
 (OMIM) Antimongoloid slant (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012).
Clinical Description OMIM Ogilvie et al. (1998) reported an unrelated girl and boy with interstitial deletions at chromosome 3q12-q21 (see CYTOGENETICS). The 4-year-old girl, who had no speech, was born at term but was hypotonic and a poor feeder. She first ...