Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
Bosma-Henkin-Christiansen syndrome
Number of Symptoms 15
OrphanetNr: 2250
OMIM Id: 603457
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
3
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
4
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
5
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
6
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
7
 (HPO:0009932) Single naris Very frequent [Orphanet] 10 / 7739
8
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
9
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
10
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
11
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
12
 (HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
13
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
14
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
15
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: