MCID: SVR093
MIFTS: 5

Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Intellectual Disability-Progressive Postnatal...

MalaCards integrated aliases for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome:

Name: Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome 59
Iqsec2-Related Syndromic Intellectual Disability 59

Characteristics:

Orphanet epidemiological data:

59
severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA397933
ICD10 via Orphanet 34 Q87.8

Summaries for Severe Intellectual Disability-Progressive Postnatal...

MalaCards based summary : Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, is also known as iqsec2-related syndromic intellectual disability. An important gene associated with Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome is IQSEC2 (IQ Motif And Sec7 Domain 2).

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Symptoms & Phenotypes for Severe Intellectual Disability-Progressive Postnatal...

Drugs & Therapeutics for Severe Intellectual Disability-Progressive Postnatal...

Search Clinical Trials , NIH Clinical Center for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome

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Expression for Severe Intellectual Disability-Progressive Postnatal...

Search GEO for disease gene expression data for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome.

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GO Terms for Severe Intellectual Disability-Progressive Postnatal...

Sources for Severe Intellectual Disability-Progressive Postnatal...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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