8q12 microduplication syndrome

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).



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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: 20

HPO ID Term Frequency
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000637 Long palpebral fissure Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0009921 Duane anomaly Very frequent (99-80%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001291 Abnormal cranial nerve morphology Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001773 Short foot Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder 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