Intellectual deficit, X-linked - precocious puberty - obesity

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr: 85318
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000826) Precocious puberty Very frequent [Orphanet] 42 / 7739
2
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
3
 (HPO:0000098) Tall stature Frequent [Orphanet] 74 / 7739
4
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: