MCID: CRB162
MIFTS: 16

Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula

Categories: Eye diseases, Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cerebrorenodigital Syndrome with Limb Malformations and...

Summaries for Cerebrorenodigital Syndrome with Limb Malformations and...

MalaCards based summary : Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula, is also known as cerebrorenodigital syndrome. Affiliated tissues include eye, and related phenotypes are hypertelorism and ptosis

Description from OMIM: 609345

Related Diseases for Cerebrorenodigital Syndrome with Limb Malformations and...

Symptoms & Phenotypes for Cerebrorenodigital Syndrome with Limb Malformations and...

Clinical features from OMIM:

609345

Human phenotypes related to Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
7 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
8 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
9 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
10 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
11 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
14 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
15 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
16 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
17 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
18 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
19 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
20 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
21 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
22 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
23 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
24 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
25 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
26 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
27 abnormality of the palate 59 Frequent (79-30%)
28 abnormal palate morphology 32 frequent (33%) HP:0000174

Drugs & Therapeutics for Cerebrorenodigital Syndrome with Limb Malformations and...

Search Clinical Trials , NIH Clinical Center for Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula

Genetic Tests for Cerebrorenodigital Syndrome with Limb Malformations and...

Anatomical Context for Cerebrorenodigital Syndrome with Limb Malformations and...

MalaCards organs/tissues related to Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula:

41
Eye

Publications for Cerebrorenodigital Syndrome with Limb Malformations and...

Variations for Cerebrorenodigital Syndrome with Limb Malformations and...

Expression for Cerebrorenodigital Syndrome with Limb Malformations and...

Search GEO for disease gene expression data for Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula.

Pathways for Cerebrorenodigital Syndrome with Limb Malformations and...

GO Terms for Cerebrorenodigital Syndrome with Limb Malformations and...

Sources for Cerebrorenodigital Syndrome with Limb Malformations and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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