6q16 deletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 6q16
Prader-Willi-like syndrome due to deletion 6q16
Del(6)(q16)
Number of Symptoms 32
OrphanetNr: 171829
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 6
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
2
(HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
3
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
(HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
5
(HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
6
(HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
7
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
8
(HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
9
(HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
10
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
11
(HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
12
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
13
(HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
14
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
15
(HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
16
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
17
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
(HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
19
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
20
(HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
21
(HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
22
(HPO:0002591) Polyphagia Frequent [Orphanet] 25 / 7739
23
(HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
24
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
25
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
26
(HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
27
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
28
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
29
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
30
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
(HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
32
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: