Monosomy 13q14

General Information (adopted from Orphanet):

Synonyms, Signs: CHROMOSOME 13q DELETION SYNDROME
Del(13)(q14)
Deletion 13q14 syndrome
Number of Symptoms 55
OrphanetNr: 1587
OMIM Id: 613884
ICD-10: Q93.5
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: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Partial deletion of the long arm of chromosome 13
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic epicanthus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
2
 (HPO:0000601) Hypotelorism 83 / 7739
3
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
6
 (HPO:0000414) Bulbous nose 63 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0000337) Broad forehead 116 / 7739
9
 (HPO:0002007) Frontal bossing 366 / 7739
10
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
11
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
12
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
13
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
14
 (HPO:0002002) Deep philtrum 42 / 7739
15
 (HPO:0000243) Trigonocephaly Frequent [Orphanet] 40 / 7739
16
 (HPO:0000268) Dolichocephaly 144 / 7739
17
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
18
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
19
 (HPO:0009919) Retinoblastoma Frequent [Orphanet] 3 / 7739
20
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
21
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
22
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
23
 (HPO:0011262) Crimped helix Very frequent [Orphanet] 12 / 7739
24
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
25
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
26
 (HPO:0002301) Hemiplegia 42 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0001269) Hemiparesis 51 / 7739
29
 (HPO:0004374) Hemiplegia/hemiparesis 158 / 7739
30
 (HPO:0000750) Delayed speech and language development 197 / 7739
31
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
32
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
33
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
34
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
35
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
36
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
37
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
38
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
39
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
40
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
41
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
 (OMIM) Deep, prominent philtrum 1 / 7739
44
 (HPO:0040080) Anteverted ears 6 / 7739
45
 (OMIM) High, broad forehead 4 / 7739
46
 (OMIM) Thick everted lower lip (deletion patients) 4 / 7739
47
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
48
 (OMIM) Anteverted ears 5 / 7739
49
 (OMIM) Short, bulbous nose 1 / 7739
50
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
51
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
52
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
53
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
54
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
55
 (OMIM) Thick earlobes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).
Clinical Description OMIM Motegi et al. (1983) suggested that patients with retinoblastoma due to an interstitial deletion of chromosome 13q have a characteristic appearance of the midface: prominent eyebrows, broad nasal bridge, bulbous tip of the nose, large mouth with thin ...