MCID: INT090
MIFTS: 10

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 53
Mental Retardation, Buenos Aires Type 73
Mental Retardation Buenos Aires Type 53
Mutchinick Syndrome 53

Classifications:



External Ids:

UMLS 73 C0796080

Summaries for Intellectual Deficit Buenos-Aires Type

NIH Rare Diseases : 53 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.

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
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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