Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004397 Ectopic anus Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0001357 Plagiocephaly Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand Frequent (79-30%)
HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes 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