MCID: INT090
MIFTS: 6

Intellectual Deficit Buenos-Aires Type

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Intellectual Deficit Buenos-Aires Type

MalaCards integrated aliases for Intellectual Deficit Buenos-Aires Type:

Name: Intellectual Deficit Buenos-Aires Type 50
Mental Retardation, Buenos Aires Type 69
Mental Retardation Buenos Aires Type 50
Mutchinick Syndrome 50

Classifications:



Summaries for Intellectual Deficit Buenos-Aires Type

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3079disease definitionintellectual disability, buenos-aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissuesyndactyly of second and third toe.visit the orphanet disease page for more resources. last updated: 2/10/2017

MalaCards based summary : Intellectual Deficit Buenos-Aires Type, also known as mental retardation, buenos aires type, is related to mental retardation, buenos aires type.

Related Diseases for Intellectual Deficit Buenos-Aires Type

Diseases related to Intellectual Deficit Buenos-Aires Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mental retardation, buenos aires type 12.2

Symptoms & Phenotypes for Intellectual Deficit Buenos-Aires Type

Drugs & Therapeutics for Intellectual Deficit Buenos-Aires Type

Search Clinical Trials , NIH Clinical Center for Intellectual Deficit Buenos-Aires Type

Genetic Tests for Intellectual Deficit Buenos-Aires Type

Anatomical Context for Intellectual Deficit Buenos-Aires Type

Publications for Intellectual Deficit Buenos-Aires Type

Variations for Intellectual Deficit Buenos-Aires Type

Expression for Intellectual Deficit Buenos-Aires Type

Search GEO for disease gene expression data for Intellectual Deficit Buenos-Aires Type.

Pathways for Intellectual Deficit Buenos-Aires Type

GO Terms for Intellectual Deficit Buenos-Aires Type

Sources for Intellectual Deficit Buenos-Aires Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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