MCID: FBL015
MIFTS: 12

Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fbln1-Related Developmental Delay-Central Nervous System...

MalaCards integrated aliases for Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome:

Name: Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Fbln1-Related Developmental Delay-Central Nervous System...

MalaCards based summary : Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome An important gene associated with Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome is FBLN1 (Fibulin 1). Related phenotypes are dysarthria and delayed speech and language development

Related Diseases for Fbln1-Related Developmental Delay-Central Nervous System...

Symptoms & Phenotypes for Fbln1-Related Developmental Delay-Central Nervous System...

Human phenotypes related to Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
4 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
5 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
6 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
7 infantile spasms 58 31 frequent (33%) Frequent (79-30%) HP:0012469
8 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
9 macular degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000608
10 syringomyelia 58 31 frequent (33%) Frequent (79-30%) HP:0003396
11 congenital bilateral hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0008780
12 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
13 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
14 choroidal neovascularization 58 31 frequent (33%) Frequent (79-30%) HP:0011506
15 pseudobulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002200
16 nonprogressive encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0007030
17 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
18 motor delay 58 Frequent (79-30%)

Drugs & Therapeutics for Fbln1-Related Developmental Delay-Central Nervous System...

Search Clinical Trials , NIH Clinical Center for Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome

Genetic Tests for Fbln1-Related Developmental Delay-Central Nervous System...

Anatomical Context for Fbln1-Related Developmental Delay-Central Nervous System...

Publications for Fbln1-Related Developmental Delay-Central Nervous System...

Variations for Fbln1-Related Developmental Delay-Central Nervous System...

Expression for Fbln1-Related Developmental Delay-Central Nervous System...

Search GEO for disease gene expression data for Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome.

Pathways for Fbln1-Related Developmental Delay-Central Nervous System...

GO Terms for Fbln1-Related Developmental Delay-Central Nervous System...

Sources for Fbln1-Related Developmental Delay-Central Nervous System...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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