MCID: MNT200
MIFTS: 17

Mental Retardation, X-Linked 97

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked 97

MalaCards integrated aliases for Mental Retardation, X-Linked 97:

Name: Mental Retardation, X-Linked 97 57 75 13
Mental Retardation, X-Linked 65 57 75
Mrx97 57 75
Mrx65 57 75
Mrxz 57 75
Mental Retardation, X-Linked, Znf711-Related 73
Mental Retardation, X-Linked 65; Mrx65 57
Mental Retardation, X-Linked, Type 97 40

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
mental retardation, x-linked 97:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300803
MedGen 42 C2749020
MeSH 44 D038901
UMLS 73 C2749020

Summaries for Mental Retardation, X-Linked 97

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 97: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked 97, is also known as mental retardation, x-linked 65. An important gene associated with Mental Retardation, X-Linked 97 is ZNF711 (Zinc Finger Protein 711). Related phenotypes are intellectual disability and intellectual disability, moderate

Description from OMIM: 300803

Symptoms & Phenotypes for Mental Retardation, X-Linked 97

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity (1 family)

Head And Neck Ears:
large ears

Neurologic Central Nervous System:
mental retardation, moderate
speech delay
motor delay

Head And Neck Face:
broad face
long face

Head And Neck Eyes:
synophrys

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)


Clinical features from OMIM:

300803

Human phenotypes related to Mental Retardation, X-Linked 97:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 intellectual disability, moderate 32 HP:0002342

Drugs & Therapeutics for Mental Retardation, X-Linked 97

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 97

Genetic Tests for Mental Retardation, X-Linked 97

Anatomical Context for Mental Retardation, X-Linked 97

Publications for Mental Retardation, X-Linked 97

Variations for Mental Retardation, X-Linked 97

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 97:

75
# Symbol AA change Variation ID SNP ID
1 ZNF711 p.Ile244Thr VAR_078572

ClinVar genetic disease variations for Mental Retardation, X-Linked 97:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF711 ZNF711, 2-BP DEL, 2157TG deletion Pathogenic
2 ZNF711 NM_021998.4(ZNF711): c.1573A> T (p.Arg525Ter) single nucleotide variant Pathogenic rs199422240 GRCh37 Chromosome X, 84526121: 84526121
3 ZNF711 NM_021998.4(ZNF711): c.1573A> T (p.Arg525Ter) single nucleotide variant Pathogenic rs199422240 GRCh38 Chromosome X, 85271115: 85271115
4 ZNF711 NM_021998.4(ZNF711): c.2054delT (p.Phe685Serfs) deletion Pathogenic rs1060505032 GRCh38 Chromosome X, 85271596: 85271596
5 ZNF711 NM_021998.4(ZNF711): c.2054delT (p.Phe685Serfs) deletion Pathogenic rs1060505032 GRCh37 Chromosome X, 84526602: 84526602
6 ZNF711 NM_021998.4(ZNF711): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs1060505033 GRCh38 Chromosome X, 85264383: 85264383
7 ZNF711 NM_021998.4(ZNF711): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs1060505033 GRCh37 Chromosome X, 84519389: 84519389
8 ZNF711 NM_021998.4(ZNF711): c.1239dup (p.Tyr414Ilefs) duplication Likely pathogenic GRCh37 Chromosome X, 84525787: 84525787
9 ZNF711 NM_021998.4(ZNF711): c.1239dup (p.Tyr414Ilefs) duplication Likely pathogenic GRCh38 Chromosome X, 85270781: 85270781
10 ZNF711 NM_001330574.1(ZNF711): c.2210T> G (p.Leu737Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 84526620: 84526620
11 ZNF711 NM_001330574.1(ZNF711): c.2210T> G (p.Leu737Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 85271614: 85271614

Expression for Mental Retardation, X-Linked 97

Search GEO for disease gene expression data for Mental Retardation, X-Linked 97.

Pathways for Mental Retardation, X-Linked 97

GO Terms for Mental Retardation, X-Linked 97

Sources for Mental Retardation, X-Linked 97

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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