Amaurosis - hypertrichosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 1021
OMIM Id: 204110
ICD-10:
UMLs: C1857588
MeSH: C536604
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011231) Prominent eyelashes 9 / 7739
2
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
3
 (HPO:0000527) Long eyelashes 46 / 7739
4
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
5
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
6
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
7
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
8
 (HPO:0000556) Retinal dystrophy 65 / 7739
9
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
10
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
11
 (HPO:0007758) Congenital visual impairment 2 / 7739
12
 (HPO:0010720) Abnormal hair pattern Very frequent [Orphanet] 14 / 7739
13
 (HPO:0001007) Hirsutism 91 / 7739
14
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
15
 (OMIM) Normal intelligence 81 / 7739
16
 (OMIM) Profound photophobia 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Severe retinal dystrophy 1 / 7739
19
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: