X-linked intellectual disability, Stevenson type

X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.



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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000391 Thickened helices Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001284 Areflexia Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0009928 Thick nasal alae Very frequent (99-80%)
HP:0010761 Broad columella Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0100540 Palpebral edema Very frequent (99-80%)
HP:0000098 Tall stature Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0001176 Large hands Frequent (79-30%)
HP:0001833 Long foot Frequent (79-30%)
HP:0010804 Tented upper lip vermilion Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)


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