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 25
Autosomal Dominant Mental Retardation 35 25

Classifications:



Summaries for Ppp2r5d-Related Intellectual Disability

Genetics Home Reference : 25 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:

41
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 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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