Hypogonadism - mitral valve prolapse - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: Cantalamessa-Baldini-Ambrosi syndrome
Number of Symptoms 15
OrphanetNr: 2233
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
2
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
5
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
7
 (HPO:0000771) Gynecomastia Very frequent [Orphanet] 53 / 7739
8
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
9
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
10
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
11
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
14
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: