Hypogonadotropic hypogonadism - frontoparietal alopecia

General Information (adopted from Orphanet):

Synonyms, Signs: Salti-Salem syndrome
Number of Symptoms 8
OrphanetNr: 2230
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[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:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
4
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
5
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
6
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
7
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
8
 (HPO:0040075) Hypopituitarism Very frequent [Orphanet] 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: