Non-distal monosomy 10q

General Information (adopted from Orphanet):

Synonyms, Signs: Non-telomeric monosomy 10q
Non-distal 10q deletion
Number of Symptoms 15
OrphanetNr: 1581
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 monosomy of the long arm of chromosome 10
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
2
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
3
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
4
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
5
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
6
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
7
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
8
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
9
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
10
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
11
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
12
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
13
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
14
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: