Senior-Loken syndrome 8

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN8
Number of Symptoms 21
OrphanetNr:
OMIM Id: 616307
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23683095 [IBIS]
Age of onset: Neonatal, Childhood
23683095 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Senior-Loken syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 23683095 IBIS 238 / 7739
2
 (HPO:0000510) Rod-cone dystrophy 23683095 IBIS 266 / 7739
3
 (HPO:0000556) Retinal dystrophy 23683095; 23559409 IBIS 65 / 7739
4
 (HPO:0000639) Nystagmus 23683095 IBIS 555 / 7739
5
 (HPO:0000662) Nyctalopia 23683095 IBIS 92 / 7739
6
 (HPO:0000505) Visual impairment 23683095 IBIS 297 / 7739
7
 (HPO:0100704) Cortical visual impairment 23559409 IBIS 28 / 7739
8
 (HPO:0001629) Ventricular septal defect 23683095 IBIS 316 / 7739
9
 (HPO:0001249) Intellectual disability 23683095 IBIS 1089 / 7739
10
 (HPO:0100543) Cognitive impairment 23683095 IBIS 230 / 7739
11
 (HPO:0001561) Polyhydramnios 23683095 IBIS 191 / 7739
12
 (HPO:0009381) Short finger 23683095 IBIS 45 / 7739
13
 (HPO:0010442) Polydactyly 23559409 IBIS 69 / 7739
14
 (HPO:0001385) Hip dysplasia 23683095 IBIS 242 / 7739
15
 (HPO:0002650) Scoliosis 23683095 IBIS 705 / 7739
16
 (HPO:0001407) Hepatic cysts 23559409 IBIS 9 / 7739
17
 (HPO:0001737) Pancreatic cysts 23559409 IBIS 15 / 7739
18
 (HPO:0000090) Nephronophthisis 23683095 IBIS 42 / 7739
19
 (HPO:0005562) Multiple renal cysts 23683095 IBIS 16 / 7739
20
 (HPO:0008897) Postnatal growth retardation 23683095 IBIS 113 / 7739
21
 (HPO:0030504) Grouped congenital hypertrophy of retinal pigment epithelium 23683095 IBIS 1 / 7739

Associated genes:

WDR19;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: