MCID: CLC060
MIFTS: 12

Clcn4-Related X-Linked Intellectual Disability Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Clcn4-Related X-Linked Intellectual Disability Syndrome

MalaCards integrated aliases for Clcn4-Related X-Linked Intellectual Disability Syndrome:

Name: Clcn4-Related X-Linked Intellectual Disability Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Clcn4-Related X-Linked Intellectual Disability Syndrome

MalaCards based summary : Clcn4-Related X-Linked Intellectual Disability Syndrome An important gene associated with Clcn4-Related X-Linked Intellectual Disability Syndrome is CLCN4 (Chloride Voltage-Gated Channel 4). Related phenotypes are global developmental delay and intellectual disability, severe

Related Diseases for Clcn4-Related X-Linked Intellectual Disability Syndrome

Symptoms & Phenotypes for Clcn4-Related X-Linked Intellectual Disability Syndrome

Human phenotypes related to Clcn4-Related X-Linked Intellectual Disability Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
3 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
6 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
7 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
8 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
9 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
10 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
11 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
12 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
14 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
15 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
16 bipolar affective disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007302
17 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
18 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
19 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
20 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
21 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
22 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
23 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
24 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
25 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
26 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
27 progressive cerebellar ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002073
28 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
29 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
30 eeg with focal spikes 58 31 occasional (7.5%) Occasional (29-5%) HP:0011193
31 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
32 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
33 focal tonic seizure 31 occasional (7.5%) HP:0011167
34 chorea 58 31 very rare (1%) Very rare (<4-1%) HP:0002072
35 inguinal hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000023
36 pes planus 58 31 very rare (1%) Very rare (<4-1%) HP:0001763
37 cryptorchidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000028
38 long face 58 31 very rare (1%) Very rare (<4-1%) HP:0000276
39 pointed chin 58 31 very rare (1%) Very rare (<4-1%) HP:0000307
40 midface retrusion 58 31 very rare (1%) Very rare (<4-1%) HP:0011800
41 unsteady gait 58 31 very rare (1%) Very rare (<4-1%) HP:0002317
42 upper limb spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0006986
43 seizures 58 Frequent (79-30%)
44 behavioral abnormality 58 Frequent (79-30%)
45 generalized tonic-clonic seizures 58 Occasional (29-5%)
46 abnormality of the cerebral white matter 58 Frequent (79-30%)
47 absence seizure 58 Occasional (29-5%)
48 focal tonic seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Clcn4-Related X-Linked Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Clcn4-Related X-Linked Intellectual Disability Syndrome

Genetic Tests for Clcn4-Related X-Linked Intellectual Disability Syndrome

Anatomical Context for Clcn4-Related X-Linked Intellectual Disability Syndrome

Publications for Clcn4-Related X-Linked Intellectual Disability Syndrome

Variations for Clcn4-Related X-Linked Intellectual Disability Syndrome

Expression for Clcn4-Related X-Linked Intellectual Disability Syndrome

Search GEO for disease gene expression data for Clcn4-Related X-Linked Intellectual Disability Syndrome.

Pathways for Clcn4-Related X-Linked Intellectual Disability Syndrome

GO Terms for Clcn4-Related X-Linked Intellectual Disability Syndrome

Sources for Clcn4-Related X-Linked Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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