MCID: XLN092
MIFTS: 10

X-Linked Neurodegenerative Syndrome, Bertini Type

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Neurodegenerative Syndrome, Bertini Type

MalaCards integrated aliases for X-Linked Neurodegenerative Syndrome, Bertini Type:

Name: X-Linked Neurodegenerative Syndrome, Bertini Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked neurodegenerative syndrome, bertini type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
x-linked neurodegenerative syndrome, bertini type:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.8
Orphanet 58 ORPHA85334

Summaries for X-Linked Neurodegenerative Syndrome, Bertini Type

MalaCards based summary : X-Linked Neurodegenerative Syndrome, Bertini Type Related phenotypes are agenesis of corpus callosum and intellectual disability

Related Diseases for X-Linked Neurodegenerative Syndrome, Bertini Type

Symptoms & Phenotypes for X-Linked Neurodegenerative Syndrome, Bertini Type

Human phenotypes related to X-Linked Neurodegenerative Syndrome, Bertini Type:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
6 generalized myoclonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002123
7 epileptic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0200134
8 macular degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0000608
9 recurrent bronchopulmonary infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0006538
10 death in infancy 58 Very frequent (99-80%)

Drugs & Therapeutics for X-Linked Neurodegenerative Syndrome, Bertini Type

Search Clinical Trials , NIH Clinical Center for X-Linked Neurodegenerative Syndrome, Bertini Type

Genetic Tests for X-Linked Neurodegenerative Syndrome, Bertini Type

Anatomical Context for X-Linked Neurodegenerative Syndrome, Bertini Type

Publications for X-Linked Neurodegenerative Syndrome, Bertini Type

Variations for X-Linked Neurodegenerative Syndrome, Bertini Type

Expression for X-Linked Neurodegenerative Syndrome, Bertini Type

Search GEO for disease gene expression data for X-Linked Neurodegenerative Syndrome, Bertini Type.

Pathways for X-Linked Neurodegenerative Syndrome, Bertini Type

GO Terms for X-Linked Neurodegenerative Syndrome, Bertini Type

Sources for X-Linked Neurodegenerative Syndrome, Bertini Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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