FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 227250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010808) Protruding tongue 28 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000256) Macrocephaly 298 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000158) Macroglossia 119 / 7739
6
 (HPO:0002355) Difficulty walking 61 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0002751) Kyphoscoliosis 131 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: