XIA-GIBBS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615829
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
 (HPO:0000565) Esotropia 58 / 7739
7
 (HPO:0009909) Uplifted earlobe 4 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0002870) Obstructive sleep apnea 16 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001508) Failure to thrive 454 / 7739
13
 (HPO:0001601) Laryngomalacia 61 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0006951) Retrocerebellar cyst rare [HPO:skoehler] 6 / 7739
16
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
17
 (HPO:0012448) Delayed myelination 51 / 7739
18
 (HPO:0009879) Cortical gyral simplification 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: