VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 602200
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:0000104) Renal agenesis 68 / 7739
2
(HPO:0000085) Horseshoe kidney 39 / 7739
3
(HPO:0000073) Ureteral duplication 11 / 7739
4
(HPO:0000086) Ectopic kidney 29 / 7739
5
(HPO:0003974) Absent radius 26 / 7739
6
(HPO:0003956) Bowed forearm bones 1 / 7739
7
(HPO:0009777) Absent thumb 31 / 7739
8
(HPO:0009821) Forearm undergrowth 8 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Medial flexion of the hands 1 / 7739
11
(OMIM) Absence of the radii 1 / 7739
12
(OMIM) Absence of the thumbs 1 / 7739
13
(HPO:0000238) Hydrocephalus 278 / 7739
14
(OMIM) Dilated Bowman capsules 1 / 7739
15
(HPO:0006956) Dilation of lateral ventricles 13 / 7739
16
(OMIM) Cystic tubular dilatation in the cortex and medulla 1 / 7739
17
(HPO:0002119) Ventriculomegaly 253 / 7739
18
(OMIM) Short, curved forearms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kovacs et al. (1997) described 2 consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe dilatation of the lateral cerebral ventricles. On the parents' decision, both pregnancies ...