Subaortic stenosis - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: onat syndrome
Number of Symptoms 61
OrphanetNr: 3191
OMIM Id: 271960
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
2
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
3
 (HPO:0012368) Flat face 106 / 7739
4
 (HPO:0000699) Diastema 10 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000160) Narrow mouth 188 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
10
 (HPO:0011800) Midface retrusion 221 / 7739
11
 (HPO:0000188) Short upper lip 8 / 7739
12
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
13
 (HPO:0000272) Malar flattening 277 / 7739
14
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
15
 (HPO:0000311) Round face 104 / 7739
16
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
18
 (HPO:0000486) Strabismus 576 / 7739
19
 (HPO:0000482) Microcornea 102 / 7739
20
 (HPO:0000659) Peters anomaly 10 / 7739
21
 (HPO:0007957) Corneal opacity 84 / 7739
22
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
23
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
24
 (HPO:0000501) Glaucoma 180 / 7739
25
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0006610) Wide intermamillary distance 46 / 7739
29
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
30
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
31
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
32
 (HPO:0004279) Short palm 323 / 7739
33
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
34
 (HPO:0009803) Short phalanx of finger 79 / 7739
35
 (HPO:0001500) Broad finger 9 / 7739
36
 (HPO:0000767) Pectus excavatum 244 / 7739
37
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
38
 (HPO:0001552) Barrel-shaped chest 31 / 7739
39
 (HPO:0001831) Short toe 52 / 7739
40
 (HPO:0200055) Small hand 71 / 7739
41
 (HPO:0001837) Broad toe 13 / 7739
42
 (HPO:0000914) Shield chest 14 / 7739
43
 (HPO:0001773) Short foot 86 / 7739
44
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
45
 (HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 17 / 7739
46
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
47
 (HPO:0001510) Growth delay 295 / 7739
48
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
49
 (HPO:0001061) Acne Occasional [Orphanet] 33 / 7739
50
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
51
 (HPO:0012303) Abnormality of the aortic arch Very frequent [Orphanet] 57 / 7739
52
 (HPO:0005174) Membranous subvalvular aortic stenosis 1 / 7739
53
 (HPO:0001682) Subaortic stenosis 17 / 7739
54
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
55
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
56
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
57
 (OMIM) Broad, short fingers 4 / 7739
58
 (OMIM) Short, broad palate 1 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
60
 (OMIM) Broad, short toes 3 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: