Paternal 20q13.2q13.3 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Paternal monosomy 20q13.2q13.3
Paternal 20q13.2-q13.3 microdeletion syndrome
Paternal del(20)(q13.2q13.3)
Paternal monosomy 20q13.2-q13.3
Number of Symptoms 22
OrphanetNr: 261304
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
3
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
4
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
5
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
7
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
8
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
11
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
12
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
13
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
14
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
15
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
18
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
19
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
20
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: