MCID: INT090
MIFTS: 10

Intellectual Deficit Buenos-Aires Type

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Deficit Buenos-Aires Type

MalaCards integrated aliases for Intellectual Deficit Buenos-Aires Type:

Name: Intellectual Deficit Buenos-Aires Type 49
Mental Retardation, Buenos Aires Type 69
Mental Retardation Buenos Aires Type 49
Mutchinick Syndrome 49

Classifications:



External Ids:

UMLS 69 C0796080

Summaries for Intellectual Deficit Buenos-Aires Type

NIH Rare Diseases : 49 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 and hydrocephalus.

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:

# Related Disease Score Top Affiliating Genes
1 mental retardation, buenos aires type 11.4
2 hydrocephalus 9.9
3 microcephaly 9.9
4 speech disorder 9.9

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

Articles related to Intellectual Deficit Buenos-Aires Type:

# Title Authors Year
1
Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. ( 9409875 )
1997

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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