MCID: SPN397
MIFTS: 9

Spinal Muscular Atrophy with Microcephaly and Mental Subnormality

Categories: Mental diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Spinal Muscular Atrophy with Microcephaly and Mental...

MalaCards integrated aliases for Spinal Muscular Atrophy with Microcephaly and Mental Subnormality:

Name: Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spinal muscular atrophy with microcephaly and mental subnormality:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 271110
MedGen 41 C1849108

Summaries for Spinal Muscular Atrophy with Microcephaly and Mental...

MalaCards based summary : Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Related phenotypes are intellectual disability and microcephaly

More information from OMIM: 271110

Related Diseases for Spinal Muscular Atrophy with Microcephaly and Mental...

Symptoms & Phenotypes for Spinal Muscular Atrophy with Microcephaly and Mental...

Human phenotypes related to Spinal Muscular Atrophy with Microcephaly and Mental Subnormality:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 proximal spinal muscular atrophy 31 HP:0006959

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly

Muscle:
muscle atrophy

Neuro:
proximal spinal muscular atrophy
mental retardation

Clinical features from OMIM:

271110

Drugs & Therapeutics for Spinal Muscular Atrophy with Microcephaly and Mental...

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Microcephaly and Mental Subnormality

Genetic Tests for Spinal Muscular Atrophy with Microcephaly and Mental...

Anatomical Context for Spinal Muscular Atrophy with Microcephaly and Mental...

Publications for Spinal Muscular Atrophy with Microcephaly and Mental...

Articles related to Spinal Muscular Atrophy with Microcephaly and Mental Subnormality:

# Title Authors PMID Year
1
Microcephaly and mental subnormalitiy in chronic progressive spinal muscular atrophy of childhood. 56
6066025 1967

Variations for Spinal Muscular Atrophy with Microcephaly and Mental...

Expression for Spinal Muscular Atrophy with Microcephaly and Mental...

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Microcephaly and Mental Subnormality.

Pathways for Spinal Muscular Atrophy with Microcephaly and Mental...

GO Terms for Spinal Muscular Atrophy with Microcephaly and Mental...

Sources for Spinal Muscular Atrophy with Microcephaly and Mental...

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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