SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6

General Information (adopted from Orphanet):

Synonyms, Signs: SKIN/HAIR/EYE PIGMENTATION 6, BLUE/GREEN EYES
SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR
SHEP6
Number of Symptoms 3
OrphanetNr:
OMIM Id: 210750
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:0001595) Abnormality of the hair 89 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Blond 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: