Intellectual deficit, X-linked - short stature - obesity

General Information (adopted from Orphanet):

Synonyms, Signs: Young-Hugues syndrome
Number of Symptoms 17
OrphanetNr: 3055
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

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:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
5
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
7
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
8
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
13
 (HPO:0000992) Cutaneous photosensitivity Occasional [Orphanet] 75 / 7739
14
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
15
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
16
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: