MCID: SPS218
MIFTS: 14

Spastic Diplegia and Mental Retardation

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Diplegia and Mental Retardation

MalaCards integrated aliases for Spastic Diplegia and Mental Retardation:

Name: Spastic Diplegia and Mental Retardation 58
Spastic Diplegia Infantile Type 54 74
Hereditary Spastic Diplegia with Mental Retardation 54
Spastic Diplegia, Infantile Type 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
spastic diplegia and mental retardation:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 270600
MedGen 43 C1849139
UMLS 74 C1849139

Summaries for Spastic Diplegia and Mental Retardation

MalaCards based summary : Spastic Diplegia and Mental Retardation, also known as spastic diplegia infantile type, is related to epilepsy, photogenic, with spastic diplegia and mental retardation and spastic diplegia. Related phenotypes are intellectual disability and spastic diplegia

Description from OMIM: 270600

Related Diseases for Spastic Diplegia and Mental Retardation

Diseases related to Spastic Diplegia and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, photogenic, with spastic diplegia and mental retardation 12.4
2 spastic diplegia 10.2

Symptoms & Phenotypes for Spastic Diplegia and Mental Retardation

Human phenotypes related to Spastic Diplegia and Mental Retardation:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 spastic diplegia 33 HP:0001264

Symptoms via clinical synopsis from OMIM:

58
Neuro:
spastic diplegia
mental deficiency

Misc:
infantile onset

Clinical features from OMIM:

270600

Drugs & Therapeutics for Spastic Diplegia and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Spastic Diplegia and Mental Retardation

Genetic Tests for Spastic Diplegia and Mental Retardation

Anatomical Context for Spastic Diplegia and Mental Retardation

Publications for Spastic Diplegia and Mental Retardation

Articles related to Spastic Diplegia and Mental Retardation:

# Title Authors Year
1
Hereditary spastic diplegia with mental retardation in two young siblings. ( 2591069 )
1989

Variations for Spastic Diplegia and Mental Retardation

Expression for Spastic Diplegia and Mental Retardation

Search GEO for disease gene expression data for Spastic Diplegia and Mental Retardation.

Pathways for Spastic Diplegia and Mental Retardation

GO Terms for Spastic Diplegia and Mental Retardation

Sources for Spastic Diplegia and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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