Senior-Loken syndrome 9

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN9
Number of Symptoms 19
OrphanetNr:
OMIM Id: 616629
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26487268 [IBIS]
Age of onset: Infancy
Childhood
26487268 [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:0000608) Macular degeneration 26487268 IBIS 36 / 7739
2
 (HPO:0000546) Retinal degeneration 26487268 IBIS 61 / 7739
3
 (HPO:0000556) Retinal dystrophy 26487268 IBIS 65 / 7739
4
 (HPO:0000639) Nystagmus 26487268 IBIS 555 / 7739
5
 (HPO:0000486) Strabismus 26487268 IBIS 576 / 7739
6
 (HPO:0001513) Obesity 26487268 IBIS 172 / 7739
7
 (HPO:0001263) Global developmental delay 26487268 IBIS 853 / 7739
8
 (HPO:0010442) Polydactyly 26487268 IBIS 69 / 7739
9
 (HPO:0008802) Hypoplasia of the femoral head 26487268 IBIS 6 / 7739
10
 (HPO:0000938) Osteopenia 26487268 IBIS 138 / 7739
11
 (HPO:0001396) Cholestasis 26487268 IBIS 136 / 7739
12
 (HPO:0001395) Hepatic fibrosis 26487268 IBIS 67 / 7739
13
 (HPO:0000135) Hypogonadism 26487268 IBIS 89 / 7739
14
 (HPO:0004722) Thickening of the glomerular basement membrane 26487268 IBIS 12 / 7739
15
 (HPO:0000091) Abnormality of the renal tubule 26487268 IBIS 15 / 7739
16
 (HPO:0001970) Tubulointerstitial nephritis 26487268 IBIS 27 / 7739
17
 (HPO:0000090) Nephronophthisis 26487268 IBIS 42 / 7739
18
 (HPO:0003774) Stage 5 chronic kidney disease 26487268 IBIS 78 / 7739
19
 (HPO:0030033) Small finger 26487268 IBIS 2 / 7739

Associated genes:

TRAF3IP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: