20p12.3 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 20p12.3
Del(20)(p12.3)
Number of Symptoms 24
OrphanetNr: 261295
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial monosomy of the short arm of chromosome 20
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
3
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
4
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
5
 (HPO:0000293) Full cheeks Occasional [Orphanet] 85 / 7739
6
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
7
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
9
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
10
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
11
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
12
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
13
 (HPO:0011262) Crimped helix Occasional [Orphanet] 12 / 7739
14
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
15
 (HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
16
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
17
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
18
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
19
 (HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 41 / 7739
20
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
21
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
22
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
23
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: