MCID: XLN091
MIFTS: 9

X-Linked Neurodegenerative Syndrome, Hamel Type

Categories: Neuronal diseases, Rare diseases

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

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

Name: X-Linked Neurodegenerative Syndrome, Hamel Type 58

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.8
Orphanet 58 ORPHA85336

Summaries for X-Linked Neurodegenerative Syndrome, Hamel Type

MalaCards based summary : X-Linked Neurodegenerative Syndrome, Hamel Type Related phenotypes are seizures and spasticity

Related Diseases for X-Linked Neurodegenerative Syndrome, Hamel Type

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

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

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 death in infancy 58 Very frequent (99-80%)

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

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

Genetic Tests for X-Linked Neurodegenerative Syndrome, Hamel Type

Anatomical Context for X-Linked Neurodegenerative Syndrome, Hamel Type

Publications for X-Linked Neurodegenerative Syndrome, Hamel Type

Variations for X-Linked Neurodegenerative Syndrome, Hamel Type

Expression for X-Linked Neurodegenerative Syndrome, Hamel Type

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

Pathways for X-Linked Neurodegenerative Syndrome, Hamel Type

GO Terms for X-Linked Neurodegenerative Syndrome, Hamel Type

Sources for X-Linked Neurodegenerative Syndrome, Hamel 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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