ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr:
OMIM Id: 616331
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000520) Proptosis 192 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0000678) Dental crowding 65 / 7739
6
 (HPO:0011800) Midface retrusion 221 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0000463) Anteverted nares 305 / 7739
9
 (HPO:0000256) Macrocephaly 298 / 7739
10
 (HPO:0000689) Dental malocclusion 114 / 7739
11
 (HPO:0000348) High forehead 157 / 7739
12
 (HPO:0000316) Hypertelorism 644 / 7739
13
 (HPO:0000207) Triangular mouth 8 / 7739
14
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
15
 (HPO:0003196) Short nose 264 / 7739
16
 (HPO:0000343) Long philtrum 262 / 7739
17
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
18
 (HPO:0002684) Thickened calvaria rare [HPO:skoehler] 32 / 7739
19
 (HPO:0000405) Conductive hearing impairment rare [HPO:skoehler] 164 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
21
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
22
 (HPO:0003027) Mesomelia rare [HPO:skoehler] 58 / 7739
23
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
24
 (HPO:0011001) Increased bone mineral density rare [HPO:skoehler] 78 / 7739
25
 (HPO:0011304) Broad thumb 39 / 7739
26
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
27
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
28
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: