MCID: XLN213
MIFTS: 4

X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

MalaCards integrated aliases for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome:

Name: X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA83648
ICD10 via Orphanet 34 Q87.0

Summaries for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

MalaCards based summary : X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome An important gene associated with X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome is OFD1 (OFD1, Centriole And Centriolar Satellite Protein).

Related Diseases for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Symptoms & Phenotypes for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Drugs & Therapeutics for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Search Clinical Trials , NIH Clinical Center for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome

Genetic Tests for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Anatomical Context for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Publications for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Variations for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Expression for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Search GEO for disease gene expression data for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome.

Pathways for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

GO Terms for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

Sources for X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary...

3 CDC
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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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