OTOFACIOOSSEOUS-GONADAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr:
OMIM Id: 601976
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature 1232 / 7739
2
 (HPO:0002857) Genu valgum 144 / 7739
3
 (HPO:0010109) Short hallux 27 / 7739
4
 (HPO:0001762) Talipes equinovarus 309 / 7739
5
 (HPO:0009702) Carpal synostosis 26 / 7739
6
 (HPO:0000248) Brachycephaly 222 / 7739
7
 (HPO:0002007) Frontal bossing 366 / 7739
8
 (HPO:0011220) Prominent forehead 137 / 7739
9
 (HPO:0002645) Wormian bones 65 / 7739
10
 (HPO:0000767) Pectus excavatum 244 / 7739
11
 (HPO:0000774) Narrow chest 167 / 7739
12
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
13
 (HPO:0000023) Inguinal hernia 181 / 7739
14
 (HPO:0000028) Cryptorchidism 347 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
16
 (HPO:0012368) Flat face 106 / 7739
17
 (HPO:0000272) Malar flattening 277 / 7739
18
 (HPO:0005280) Depressed nasal bridge 381 / 7739
19
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
20
 (HPO:0000286) Epicanthus 371 / 7739
21
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
24
 (HPO:0000411) Protruding ear 140 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Low nasal root 3 / 7739
27
 (OMIM) Round nasal tip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: