Distal monosomy 10p

General Information (adopted from Orphanet):

Synonyms, Signs: DGS2
Telomeric deletion 10p
Distal 10p deletion
Monosomy 10pter
Number of Symptoms 31
OrphanetNr: 1580
OMIM Id: 601362
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: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
2
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
5
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
6
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
7
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
10
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
11
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
12
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
13
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
14
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
15
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
16
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
17
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
18
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
19
 (HPO:0009811) Abnormality of the elbow Occasional [Orphanet] 30 / 7739
20
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
21
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
22
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
23
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
24
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
25
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
26
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
27
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
29
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
30
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
31
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: