MCID: CBT001
MIFTS: 17

Cubitus Valgus with Mental Retardation and Unusual Facies

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

Aliases & Classifications for Cubitus Valgus with Mental Retardation and Unusual Facies

MalaCards integrated aliases for Cubitus Valgus with Mental Retardation and Unusual Facies:

Name: Cubitus Valgus with Mental Retardation and Unusual Facies 58 13
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome 60

Characteristics:

Orphanet epidemiological data:

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

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
cubitus valgus with mental retardation and unusual facies:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Cubitus Valgus with Mental Retardation and Unusual Facies

MalaCards based summary : Cubitus Valgus with Mental Retardation and Unusual Facies, is also known as x-linked intellectual disability-cubitus valgus-dysmorphism syndrome. An important gene associated with Cubitus Valgus with Mental Retardation and Unusual Facies is CVMRF (Cubitus Valgus With Mental Retardation And Unusual Facies). Affiliated tissues include eye, and related phenotypes are abnormal facial shape and cubitus valgus

Description from OMIM: 300471

Related Diseases for Cubitus Valgus with Mental Retardation and Unusual Facies

Symptoms & Phenotypes for Cubitus Valgus with Mental Retardation and Unusual Facies

Human phenotypes related to Cubitus Valgus with Mental Retardation and Unusual Facies:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
2 cubitus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002967
3 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
4 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
5 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
6 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
7 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
8 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
9 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
12 truncal obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001956
13 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
14 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
15 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
16 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
17 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation, moderate

Head And Neck Mouth:
short philtrum
inverted v-shaped mouth

Growth Weight:
truncal obesity, mild

Skin Nails Hair Skin:
nevi, multiple

Skeletal Limbs:
cubitus valgus

Head And Neck Eyes:
downslanting palpebral fissures
deep-set eyes

Head And Neck Head:
microcephaly (occipitofrontal head circumference, ofc, at or below 3rd centile)

Clinical features from OMIM:

300471

Drugs & Therapeutics for Cubitus Valgus with Mental Retardation and Unusual Facies

Search Clinical Trials , NIH Clinical Center for Cubitus Valgus with Mental Retardation and Unusual Facies

Genetic Tests for Cubitus Valgus with Mental Retardation and Unusual Facies

Anatomical Context for Cubitus Valgus with Mental Retardation and Unusual Facies

MalaCards organs/tissues related to Cubitus Valgus with Mental Retardation and Unusual Facies:

42
Eye

Publications for Cubitus Valgus with Mental Retardation and Unusual Facies

Variations for Cubitus Valgus with Mental Retardation and Unusual Facies

Expression for Cubitus Valgus with Mental Retardation and Unusual Facies

Search GEO for disease gene expression data for Cubitus Valgus with Mental Retardation and Unusual Facies.

Pathways for Cubitus Valgus with Mental Retardation and Unusual Facies

GO Terms for Cubitus Valgus with Mental Retardation and Unusual Facies

Sources for Cubitus Valgus with Mental Retardation and Unusual Facies

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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