X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000995 Melanocytic nevus Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001956 Truncal obesity Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0001182 Tapered finger Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID