10q22.3q23.3 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Deletion 10q22.3q23.3
Monosomy 10q22.3q23.3
Del(10)(q22.3q23.3)
Number of Symptoms 30
OrphanetNr: 276413
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial monosomy of the long arm of chromosome 10
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
2
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
4
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
5
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
8
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
9
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
10
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
11
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
12
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
13
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
14
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
17
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
18
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
19
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
20
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
21
 (HPO:0200008) Intestinal polyposis Occasional [Orphanet] 23 / 7739
22
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
23
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
24
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
25
 (HPO:0006695) Atrioventricular canal defect Occasional [Orphanet] 27 / 7739
26
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
27
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
28
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: