MCID: MNT257
MIFTS: 18

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 56 52
X-Linked Intellectual Disability-Plagiocephaly Syndrome 52 58
Mental Retardation, X-Linked, Hyde-Forster Type 56 52
Hyde Forster Mccarthy Berry Syndrome 52 29
Plagiocephaly and X-Linked Mental Retardation 71
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:

56
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 56 300064
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C2931516
Orphanet 58 ORPHA2898
MedGen 41 C2931516
UMLS 71 C2931516

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2898 Definition A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Visit the Orphanet disease page for more resources.

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

More information from OMIM: 300064

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

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 (33%) Frequent (79-30%) HP:0000280
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
6 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
7 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
8 developmental stagnation 58 31 frequent (33%) Frequent (79-30%) HP:0007281
9 morning myoclonic jerks 58 31 frequent (33%) Frequent (79-30%) HP:0007000
10 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
11 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
12 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
13 diffuse cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002506
14 bradycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001662
15 frontal bossing 31 HP:0002007

Symptoms via clinical synopsis from OMIM:

56
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

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

# Genetic test Affiliating Genes
1 Hyde Forster Mccarthy Berry Syndrome 29

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

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

40
Bone

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? 56
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
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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