OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 257790
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:0000218) High palate 356 / 7739
2
 (HPO:0000268) Dolichocephaly 144 / 7739
3
 (HPO:0000691) Microdontia 104 / 7739
4
 (HPO:0000687) Widely spaced teeth 40 / 7739
5
 (HPO:0000518) Cataract 454 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001510) Growth delay 295 / 7739
8
 (HPO:0007513) Generalized hypopigmentation 12 / 7739
9
 (HPO:0001931) Hypochromic anemia 5 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Small and widely spaced teeth 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: