MCID: MNT289
MIFTS: 17

Mental Retardation, X-Linked 103

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

Aliases & Classifications for Mental Retardation, X-Linked 103

MalaCards integrated aliases for Mental Retardation, X-Linked 103:

Name: Mental Retardation, X-Linked 103 57 75 6
Mrx103 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated families have been reported
a female carrier in 1 family was mildly affected


HPO:

32
mental retardation, x-linked 103:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 103

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 103: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked 103, is also known as mrx103. An important gene associated with Mental Retardation, X-Linked 103 is KLHL15 (Kelch Like Family Member 15). Related phenotypes are cryptorchidism and micropenis

Description from OMIM: 300982

Symptoms & Phenotypes for Mental Retardation, X-Linked 103

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
absent speech (patient a)
seizures (patient a)
polymicrogyria (patient a)
more
Head And Neck Nose:
anteverted nares (patient a)

Genitourinary External Genitalia Male:
micropenis (patient a)

Head And Neck Face:
coarse facial features (patient a)

Head And Neck Mouth:
large mouth (patient a)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (patient a)


Clinical features from OMIM:

300982

Human phenotypes related to Mental Retardation, X-Linked 103:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 micropenis 32 HP:0000054
3 wide mouth 32 HP:0000154
4 coarse facial features 32 HP:0000280
5 anteverted nares 32 HP:0000463
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 global developmental delay 32 HP:0001263
9 absent speech 32 HP:0001344
10 ventriculomegaly 32 HP:0002119
11 polymicrogyria 32 HP:0002126

Drugs & Therapeutics for Mental Retardation, X-Linked 103

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 103

Genetic Tests for Mental Retardation, X-Linked 103

Anatomical Context for Mental Retardation, X-Linked 103

Publications for Mental Retardation, X-Linked 103

Variations for Mental Retardation, X-Linked 103

ClinVar genetic disease variations for Mental Retardation, X-Linked 103:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL15 KLHL15, 22.5-KB DEL deletion Pathogenic
2 KLHL15 KLHL15, 1-BP DEL deletion Pathogenic

Expression for Mental Retardation, X-Linked 103

Search GEO for disease gene expression data for Mental Retardation, X-Linked 103.

Pathways for Mental Retardation, X-Linked 103

GO Terms for Mental Retardation, X-Linked 103

Sources for Mental Retardation, X-Linked 103

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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