Distal monosomy 19p13.3

General Information (adopted from Orphanet):

Synonyms, Signs: Telomeric deletion 19p
Distal deletion 19p
Number of Symptoms 23
OrphanetNr: 96129
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the short arm of chromosome 19
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000045) Abnormality of the scrotum Very frequent [Orphanet] 14 / 7739
2
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
3
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
4
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
5
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
7
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
9
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
10
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
11
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
12
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
13
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
14
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
15
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
16
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
17
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
18
 (HPO:0001702) Abnormality of the tricuspid valve Very frequent [Orphanet] 32 / 7739
19
 (HPO:0001641) Abnormality of the pulmonary valve Very frequent [Orphanet] 27 / 7739
20
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
21
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
22
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: