6p22 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Del(6)(p22)
Monosomy 6p22
Number of Symptoms 23
OrphanetNr: 251046
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 deletion of the short arm of chromosome 6
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Occasional [Orphanet] 33 / 7739
2
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
3
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
4
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
5
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
8
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
9
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
10
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
11
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
12
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
13
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
14
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
15
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
16
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
17
 (HPO:0001582) Redundant skin Occasional [Orphanet] 51 / 7739
18
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
19
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
20
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
21
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
22
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: