MCID: PPP001
MIFTS: 8

Ppp2r5d-Related Intellectual Disability

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ppp2r5d-Related Intellectual Disability

MalaCards integrated aliases for Ppp2r5d-Related Intellectual Disability:

Name: Ppp2r5d-Related Intellectual Disability 26
Autosomal Dominant Mental Retardation 35 26

Classifications:



Summaries for Ppp2r5d-Related Intellectual Disability

Genetics Home Reference : 26 PPP2R5D-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder, which is characterized by impaired communications and social interaction, can also occur in affected individuals. Most people with PPP2R5D-related intellectual disability have an unusually large head size (macrocephaly), and some have other unusual facial features, including a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and eyes that slant downward (downslanting palpebral fissures).

MalaCards based summary : Ppp2r5d-Related Intellectual Disability, also known as autosomal dominant mental retardation 35, is related to mental retardation, autosomal dominant 35. Affiliated tissues include eye.

Related Diseases for Ppp2r5d-Related Intellectual Disability

Symptoms & Phenotypes for Ppp2r5d-Related Intellectual Disability

Drugs & Therapeutics for Ppp2r5d-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Ppp2r5d-Related Intellectual Disability

Genetic Tests for Ppp2r5d-Related Intellectual Disability

Anatomical Context for Ppp2r5d-Related Intellectual Disability

MalaCards organs/tissues related to Ppp2r5d-Related Intellectual Disability:

42
Eye

Publications for Ppp2r5d-Related Intellectual Disability

Variations for Ppp2r5d-Related Intellectual Disability

Expression for Ppp2r5d-Related Intellectual Disability

Search GEO for disease gene expression data for Ppp2r5d-Related Intellectual Disability.

Pathways for Ppp2r5d-Related Intellectual Disability

GO Terms for Ppp2r5d-Related Intellectual Disability

Sources for Ppp2r5d-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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