CHROMOSOME 17p13.1 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 44
OrphanetNr:
OMIM Id: 613776
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000463) Anteverted nares 305 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0002553) Highly arched eyebrow 92 / 7739
4
(HPO:0000426) Prominent nasal bridge 121 / 7739
5
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
(HPO:0000465) Webbed neck rare [HPO:skoehler] 81 / 7739
7
(HPO:0000470) Short neck 345 / 7739
8
(HPO:0000348) High forehead 157 / 7739
9
(HPO:0000286) Epicanthus 371 / 7739
10
(HPO:0000331) Short chin 33 / 7739
11
(HPO:0000233) Thin vermilion border 124 / 7739
12
(HPO:0000486) Strabismus 576 / 7739
13
(HPO:0011265) Cleft earlobe 12 / 7739
14
(HPO:0004467) Preauricular pit 39 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0000729) Autistic behavior 27 / 7739
17
(HPO:0011448) Ankle clonus 31 / 7739
18
(HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
19
(HPO:0002360) Sleep disturbance 113 / 7739
20
(HPO:0003186) Inverted nipples 15 / 7739
21
(HPO:0004279) Short palm 323 / 7739
22
(HPO:0009623) Proximal placement of thumb 50 / 7739
23
(HPO:0001380) Ligamentous laxity 8 / 7739
24
(HPO:0001773) Short foot 86 / 7739
25
(HPO:0001847) Long hallux 13 / 7739
26
(HPO:0002987) Elbow flexion contracture 64 / 7739
27
(HPO:0006380) Knee flexion contracture 56 / 7739
28
(HPO:0010055) Broad hallux 56 / 7739
29
(HPO:0011968) Feeding difficulties 240 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(HPO:0001252) Muscular hypotonia 990 / 7739
32
(HPO:0001324) Muscle weakness 859 / 7739
33
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
(OMIM) Recessed chin 1 / 7739
35
(OMIM) Corners of mouth downturned 1 / 7739
36
(OMIM) Speech, limited or nonverbal 1 / 7739
37
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
(HPO:0001466) Contiguous gene syndrome 8 / 7739
39
(OMIM) Gastrointestinal reflux 1 / 7739
40
(OMIM) No cancer despite harboring complete deletions of the TP53 gene 1 / 7739
41
(OMIM) Contiguous gene deletion syndrome 23 / 7739
42
(OMIM) Sacral crease 1 / 7739
43
(OMIM) Inverted nipples, bilaterally 1 / 7739
44
(HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Krepischi-Santos et al. (2009) reported a girl from the United Kingdom and 3 Brazilian boys, who were each found to have a microdeletion within or spanning chromosome 17p13.1. All presented with severe to profound mental retardation, absent or ...
Molecular genetics OMIM In 4 patients with syndromic mental retardation, Krepischi-Santos et al. (2009) identified microdeletions of chromosome 17p13.3-p13.1, ranging in size from 287 kb to 4.4 Mb, each with unique breakpoints. An overlapping segment of approximately 180 kb of chromosome ...