Van den Bosch syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 3417
OMIM Id: 314500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrokeratoderma
 -Rare skin disease
Genetic acrokeratoderma
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
2
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
3
 (HPO:0000610) Abnormality of the choroid Very frequent [Orphanet] 11 / 7739
4
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
5
 (HPO:0001139) Choroideremia 7 / 7739
6
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
7
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
10
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0000970) Anhidrosis 24 / 7739
13
 (HPO:0200016) Acrokeratosis 4 / 7739
14
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
15
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
16
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (OMIM) Skeletal deformity 1 / 7739
19
 (MedDRA:10069445) Acrokeratosis verruciformis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: