MCID: XLN162
MIFTS: 21

X-Linked Intellectual Disability, Najm Type

Categories: Rare diseases, Mental diseases, Neuronal diseases

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

MalaCards integrated aliases for X-Linked Intellectual Disability, Najm Type:

Name: X-Linked Intellectual Disability, Najm Type 49
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 49
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 49
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 49
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 69
Microcephaly with Pontine and Cerebellar Hypoplasia 49
Micpch Syndrome 49
Micpch 49

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on CASK-Related Disorders.

MalaCards based summary : X-Linked Intellectual Disability, Najm Type, also known as x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and cerebellar hypoplasia, and has symptoms including microcephaly, hypertelorism and broad forehead.

Related Diseases for X-Linked Intellectual Disability, Najm Type

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

# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.6
2 cerebellar hypoplasia 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 microcephaly 10.2

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

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 frequent (33%) HP:0000252
2 hypertelorism 31 frequent (33%) HP:0000316
3 broad forehead 31 frequent (33%) HP:0000337
4 long philtrum 31 frequent (33%) HP:0000343
5 micrognathia 31 frequent (33%) HP:0000347
6 macrotia 31 frequent (33%) HP:0000400
7 sensorineural hearing impairment 31 frequent (33%) HP:0000407
8 wide nasal bridge 31 frequent (33%) HP:0000431
9 strabismus 31 frequent (33%) HP:0000486
10 visual impairment 31 frequent (33%) HP:0000505
11 cataract 31 frequent (33%) HP:0000518
12 myopia 31 frequent (33%) HP:0000545
13 chorioretinal coloboma 31 occasional (7.5%) HP:0000567
14 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
15 nystagmus 31 frequent (33%) HP:0000639
16 optic atrophy 31 occasional (7.5%) HP:0000648
17 seizures 31 frequent (33%) HP:0001250
18 spasticity 31 occasional (7.5%) HP:0001257
19 gait disturbance 31 frequent (33%) HP:0001288
20 cerebellar hypoplasia 31 hallmark (90%) HP:0001321
21 absent speech 31 occasional (7.5%) HP:0001344
22 failure to thrive 31 occasional (7.5%) HP:0001508
23 rigidity 31 occasional (7.5%) HP:0002063
24 cerebral cortical atrophy 31 frequent (33%) HP:0002120
25 intellectual disability, moderate 31 hallmark (90%) HP:0002342
26 scoliosis 31 occasional (7.5%) HP:0002650
27 severe global developmental delay 31 hallmark (90%) HP:0011344

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


muscle weakness, muscle spasticity

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

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

Genetic Tests for X-Linked Intellectual Disability, Najm Type

Anatomical Context for X-Linked Intellectual Disability, Najm Type

Publications for X-Linked Intellectual Disability, Najm Type

Articles related to X-Linked Intellectual Disability, Najm Type:

# Title Authors Year
1
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747 )
2017

Variations for X-Linked Intellectual Disability, Najm Type

Expression for X-Linked Intellectual Disability, Najm Type

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

Pathways for X-Linked Intellectual Disability, Najm Type

GO Terms for X-Linked Intellectual Disability, Najm Type

Sources for X-Linked Intellectual Disability, Najm Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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