MCID: SPN397
MIFTS: 8

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinal muscular atrophy with microcephaly and mental subnormality:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271110
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 proximal spinal muscular atrophy 32 HP:0006959

Symptoms via clinical synopsis from OMIM:

57
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. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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