MCID: PPP001
MIFTS: 6

Ppp2r5d-Related Intellectual Disability

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal 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). PPP2R5D PPP2R5D

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:

40
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
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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