Ulna hypoplasia-intellectual disability syndrome

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.



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: 20

HPO ID Term Frequency
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000270 Delayed cranial suture closure Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001802 Absent toenail Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0001840 Metatarsus adductus Very frequent (99-80%)
HP:0001883 Talipes Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0009465 Ulnar deviation of finger Very frequent (99-80%)
HP:0010059 Broad hallux phalanx Frequent (79-30%)
HP:0011304 Broad thumb 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