MCID: MNT257
MIFTS: 16

Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

MalaCards integrated aliases for Mental Retardation, X-Linked, with Craniofacial Dysmorphism:

Name: Mental Retardation, X-Linked, with Craniofacial Dysmorphism 58
X-Linked Intellectual Disability-Plagiocephaly Syndrome 60
Mental Retardation, X-Linked, Hyde-Forster Type 58
Plagiocephaly and X-Linked Mental Retardation 74
Hyde Forster-Mccarthy-Berry Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability-plagiocephaly syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked


HPO:

33
mental retardation, x-linked, with craniofacial dysmorphism:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300064
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C2931516
Orphanet 60 ORPHA2898
MedGen 43 C2931516
UMLS 74 C2931516

Summaries for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

MalaCards based summary : Mental Retardation, X-Linked, with Craniofacial Dysmorphism, also known as x-linked intellectual disability-plagiocephaly syndrome, is related to x-linked intellectual disability-plagiocephaly syndrome. Affiliated tissues include bone, and related phenotypes are coarse facial features and brachycephaly

Description from OMIM: 300064

Related Diseases for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Diseases related to Mental Retardation, X-Linked, with Craniofacial Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability-plagiocephaly syndrome 11.6

Symptoms & Phenotypes for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Human phenotypes related to Mental Retardation, X-Linked, with Craniofacial Dysmorphism:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 60 33 Frequent (79-30%) HP:0000280
2 brachycephaly 60 33 Frequent (79-30%) HP:0000248
3 prominent forehead 60 33 Frequent (79-30%) HP:0011220
4 intellectual disability, moderate 60 33 Frequent (79-30%) HP:0002342
5 plagiocephaly 60 33 Frequent (79-30%) HP:0001357
6 frontal bossing 33 HP:0002007
7 delayed speech and language development 60 Frequent (79-30%)
8 microcephaly 60 Frequent (79-30%)
9 intellectual disability, severe 60 Frequent (79-30%)
10 developmental stagnation 60 Frequent (79-30%)
11 morning myoclonic jerks 60 Frequent (79-30%)
12 flat occiput 60 Frequent (79-30%)
13 decreased fetal movement 60 Frequent (79-30%)
14 bradycardia 60 Frequent (79-30%)
15 diffuse cerebral atrophy 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Facies:
coarse facial features
prominent forehead

Neuro:
moderate mental retardation

Head:
brachycephaly
plagiocephaly

Clinical features from OMIM:

300064

Drugs & Therapeutics for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Genetic Tests for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Anatomical Context for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

MalaCards organs/tissues related to Mental Retardation, X-Linked, with Craniofacial Dysmorphism:

42
Bone

Publications for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Variations for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Expression for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with Craniofacial Dysmorphism.

Pathways for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

GO Terms for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

Sources for Mental Retardation, X-Linked, with Craniofacial Dysmorphism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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