Paraplegia-intellectual disability-hyperkeratosis syndrome

A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001258 Spastic paraplegia Very frequent (99-80%)
HP:0002061 Lower limb spasticity Very frequent (99-80%)
HP:0003189 Long nose Very frequent (99-80%)
HP:0010579 Cone-shaped epiphysis Very frequent (99-80%)
HP:0010620 Malar prominence Very frequent (99-80%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0001348 Brisk reflexes Frequent (79-30%)
HP:0002209 Sparse scalp hair Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000639 Nystagmus 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