MCID: MNT257
MIFTS: 15

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 57
X-Linked Intellectual Disability-Plagiocephaly Syndrome 58
Mental Retardation, X-Linked, Hyde-Forster Type 57
Plagiocephaly and X-Linked Mental Retardation 70
Hyde Forster-Mccarthy-Berry Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-plagiocephaly syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
mental retardation, x-linked, with craniofacial dysmorphism:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 300064
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C2931516
Orphanet 58 ORPHA2898
MedGen 41 C2931516
UMLS 70 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. Related phenotypes are coarse facial features and brachycephaly

More information 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 11.7

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

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

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 Frequent (79-30%) HP:0000280
2 brachycephaly 58 31 Frequent (79-30%) HP:0000248
3 prominent forehead 58 31 Frequent (79-30%) HP:0011220
4 intellectual disability, moderate 58 31 Frequent (79-30%) HP:0002342
5 plagiocephaly 58 31 Frequent (79-30%) HP:0001357
6 frontal bossing 31 HP:0002007
7 delayed speech and language development 58 Frequent (79-30%)
8 microcephaly 58 Frequent (79-30%)
9 intellectual disability, severe 58 Frequent (79-30%)
10 developmental stagnation 58 Frequent (79-30%)
11 flat occiput 58 Frequent (79-30%)
12 decreased fetal movement 58 Frequent (79-30%)
13 diffuse cerebral atrophy 58 Frequent (79-30%)
14 bradycardia 58 Frequent (79-30%)
15 morning myoclonic jerks 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Facies:
coarse facial features
prominent forehead

Neuro:
moderate mental retardation

Head:
brachycephaly
plagiocephaly

Clinical features from OMIM®:

300064 (Updated 05-Apr-2021)

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

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

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

# Title Authors PMID Year
1
A new X linked syndrome with mental retardation and craniofacial dysmorphism? 57
1433236 1992

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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