X-linked intellectual disability, Siderius type

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome.



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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000204 Cleft upper lip Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0008734 Decreased testicular size Frequent (79-30%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PHF8 PHD finger protein 8 23133