X-linked intellectual deficit, Golabi-Ito-Hall type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 93947
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: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Renpenning syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
2
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
5
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
6
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
8
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
10
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
11
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
14
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: