CARDIOFACIOCUTANEOUS SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 615280
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:0000348) High forehead 157 / 7739
2
 (HPO:0002223) Absent eyebrow 21 / 7739
3
 (HPO:0000506) Telecanthus 156 / 7739
4
 (HPO:0000341) Narrow forehead 96 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0000519) Congenital cataract 73 / 7739
7
 (HPO:0000639) Nystagmus 555 / 7739
8
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
9
 (HPO:0000545) Myopia 286 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002650) Scoliosis 705 / 7739
12
 (HPO:0000766) Abnormality of the sternum 31 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0000974) Hyperextensible skin 59 / 7739
15
 (HPO:0001003) Multiple lentigines 11 / 7739
16
 (HPO:0000975) Hyperhidrosis 64 / 7739
17
 (HPO:0001642) Pulmonic stenosis 89 / 7739
18
 (HPO:0001646) Abnormality of the aortic valve 55 / 7739
19
 (HPO:0010438) Abnormality of the ventricular septum 3 / 7739
20
 (HPO:0002046) Heat intolerance 13 / 7739
21
 (HPO:0001252) Muscular hypotonia 990 / 7739
22
 (HPO:0030047) Abnormality of lateral ventricle 2 / 7739
23
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
24
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: