MCID: XLN204
MIFTS: 12

X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual...

MalaCards integrated aliases for X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome:

Name: X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual...

MalaCards based summary : X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome Related phenotypes are mandibular prognathia and bilateral single transverse palmar creases

Related Diseases for X-Linked Intellectual...

Symptoms & Phenotypes for X-Linked Intellectual...

Human phenotypes related to X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
2 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
4 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
5 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
6 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
7 seizure 31 hallmark (90%) HP:0001250
8 decreased circulating antibody level 31 hallmark (90%) HP:0004313
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 prominent supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000336
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
13 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
17 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
18 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
19 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
20 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
21 seizures 58 Very frequent (99-80%)
22 decreased antibody level in blood 58 Very frequent (99-80%)
23 hypertrichosis 58 Very frequent (99-80%)

Drugs & Therapeutics for X-Linked Intellectual...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome

Genetic Tests for X-Linked Intellectual...

Anatomical Context for X-Linked Intellectual...

Publications for X-Linked Intellectual...

Variations for X-Linked Intellectual...

Expression for X-Linked Intellectual...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome.

Pathways for X-Linked Intellectual...

GO Terms for X-Linked Intellectual...

Sources for X-Linked Intellectual...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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