Skeletal dysplasia-epilepsy-short stature syndrome

Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.



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

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000689 Dental malocclusion Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001385 Hip dysplasia Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002866 Hypoplastic iliac wing Very frequent (99-80%)
HP:0003212 Increased circulating total IgE level Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)


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