MCID: CBT001
MIFTS: 18

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 57 13
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
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 malar flattening and pectus excavatum

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
8 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
9 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
10 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
11 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
12 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
13 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
14 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
15 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
16 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
17 truncal obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001956

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:

41
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 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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