Diencephalic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 1672
OMIM Id:
ICD-10: C72.8
UMLs: C0342436
MeSH:
MedDRA:
Snomed: 237733001

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease
Rare hypothalamic or pituitary disease
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000040) Long penis Frequent [Orphanet] 17 / 7739
2
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
3
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
4
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
5
 (HPO:0100006) Neoplasm of the central nervous system Very frequent [Orphanet] 34 / 7739
6
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
7
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
8
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
9
 (HPO:0001176) Large hands Occasional [Orphanet] 43 / 7739
10
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
11
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
12
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
13
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
14
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: