Distal monosomy 7q36

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 7qter
Telomeric deletion 7q36
Distal deletion 7q36
Number of Symptoms 30
OrphanetNr: 1636
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 long arm of chromosome 7
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
3
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
4
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
5
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
6
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
7
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
8
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
12
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
13
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
14
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
15
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
16
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
17
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
18
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
20
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
21
 (HPO:0009700) Finger symphalangism Occasional [Orphanet] 55 / 7739
22
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
25
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
26
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
27
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
28
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: