CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 605685
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:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000448) Prominent nose 56 / 7739
3
 (HPO:0000340) Sloping forehead 86 / 7739
4
 (HPO:0010541) Cutis gyrata of scalp 6 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
7
 (HPO:0100019) Cortical cataract 3 / 7739
8
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
9
 (HPO:0000523) Subcapsular cataract 12 / 7739
10
 (HPO:0000577) Exotropia 43 / 7739
11
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0002751) Kyphoscoliosis 131 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Progressive retinitis pigmentosa 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: