MCID: MNT299
MIFTS: 10

Mental and Growth Retardation with Amblyopia

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Mental and Growth Retardation with Amblyopia

MalaCards integrated aliases for Mental and Growth Retardation with Amblyopia:

Name: Mental and Growth Retardation with Amblyopia 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
mental and growth retardation with amblyopia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental and Growth Retardation with Amblyopia

MalaCards based summary : Mental and Growth Retardation with Amblyopia Related phenotypes are intellectual disability and growth delay

More information from OMIM: 156190

Related Diseases for Mental and Growth Retardation with Amblyopia

Symptoms & Phenotypes for Mental and Growth Retardation with Amblyopia

Human phenotypes related to Mental and Growth Retardation with Amblyopia:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 growth delay 31 HP:0001510
3 amblyopia 31 HP:0000646

Symptoms via clinical synopsis from OMIM:

56
Eyes:
amblyopia

Growth:
growth deficiency

Neuro:
mental retardation

Lab:
reciprocal balanced translocation t(8,11)(q24.3,p15.1)

Clinical features from OMIM:

156190

Drugs & Therapeutics for Mental and Growth Retardation with Amblyopia

Search Clinical Trials , NIH Clinical Center for Mental and Growth Retardation with Amblyopia

Genetic Tests for Mental and Growth Retardation with Amblyopia

Anatomical Context for Mental and Growth Retardation with Amblyopia

Publications for Mental and Growth Retardation with Amblyopia

Articles related to Mental and Growth Retardation with Amblyopia:

# Title Authors PMID Year
1
Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1). 56
2585460 1989
2
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. 56
6127950 1982

Variations for Mental and Growth Retardation with Amblyopia

Expression for Mental and Growth Retardation with Amblyopia

Search GEO for disease gene expression data for Mental and Growth Retardation with Amblyopia.

Pathways for Mental and Growth Retardation with Amblyopia

GO Terms for Mental and Growth Retardation with Amblyopia

Sources for Mental and Growth Retardation with Amblyopia

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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