MCID: XLN162
MIFTS: 13

X-Linked Intellectual Disability, Najm Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for X-Linked Intellectual Disability, Najm Type

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Aliases & Descriptions for X-Linked Intellectual Disability, Najm Type:

Name: X-Linked Intellectual Disability, Najm Type 48
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 48 24
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 24 68
Micpch 48 24
 
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 48
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 48
Microcephaly with Pontine and Cerebellar Hypoplasia 48
Micpch Syndrome 48

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

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MalaCards based summary: X-Linked Intellectual Disability, Najm Type, also known as intellectual disability and microcephaly with pontine and cerebellar hypoplasia, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia, and has symptoms including muscle spasticity, muscle weakness and microcephaly. An important gene associated with X-Linked Intellectual Disability, Najm Type is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase).

Related Diseases for X-Linked Intellectual Disability, Najm Type

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Diseases related to X-Linked Intellectual Disability, Najm Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation and microcephaly with pontine and cerebellar hypoplasia11.5

Symptoms & Phenotypes for X-Linked Intellectual Disability, Najm Type

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Human phenotypes related to X-Linked Intellectual Disability, Najm Type:

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 hypertelorism64 HP:0000316
3 broad forehead64 HP:0000337
4 long philtrum64 HP:0000343
5 micrognathia64 HP:0000347
6 macrotia64 HP:0000400
7 sensorineural hearing impairment64 HP:0000407
8 wide nasal bridge64 HP:0000431
9 strabismus64 HP:0000486
10 visual impairment64 HP:0000505
11 cataract64 HP:0000518
12 myopia64 HP:0000545
13 chorioretinal coloboma64 HP:0000567
14 optic nerve hypoplasia64 HP:0000609
15 nystagmus64 HP:0000639
16 optic atrophy64 HP:0000648
17 seizures64 HP:0001250
18 spasticity64 HP:0001257
19 gait disturbance64 HP:0001288
20 cerebellar hypoplasia64 HP:0001321
21 absent speech64 HP:0001344
22 failure to thrive64 HP:0001508
23 rigidity64 HP:0002063
24 cerebral cortical atrophy64 HP:0002120
25 intellectual disability, moderate64 HP:0002342
26 scoliosis64 HP:0002650
27 severe global developmental delay64 HP:0011344

UMLS symptoms related to X-Linked Intellectual Disability, Najm Type:


muscle spasticity, muscle weakness

Drugs & Therapeutics for X-Linked Intellectual Disability, Najm Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for X-Linked Intellectual Disability, Najm Type

Genetic Tests for X-Linked Intellectual Disability, Najm Type

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Genetic tests related to X-Linked Intellectual Disability, Najm Type:

id Genetic test Affiliating Genes
1 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia24 CASK

Anatomical Context for X-Linked Intellectual Disability, Najm Type

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Publications for X-Linked Intellectual Disability, Najm Type

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Variations for X-Linked Intellectual Disability, Najm Type

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Expression for genes affiliated with X-Linked Intellectual Disability, Najm Type

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Search GEO for disease gene expression data for X-Linked Intellectual Disability, Najm Type.

Pathways for genes affiliated with X-Linked Intellectual Disability, Najm Type

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GO Terms for genes affiliated with X-Linked Intellectual Disability, Najm Type

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Sources for X-Linked Intellectual Disability, Najm Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet