19p13.12 microdeletion syndrome

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.



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: 55

HPO ID Term Frequency
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000446 Narrow nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0000668 Hypodontia Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004279 Short palm Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0011675 Arrhythmia Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000405 Conductive hearing impairment Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000826 Precocious puberty Occasional (29-5%)
HP:0001363 Craniosynostosis Occasional (29-5%)
HP:0001397 Hepatic steatosis Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001653 Mitral regurgitation Occasional (29-5%)
HP:0001659 Aortic regurgitation Occasional (29-5%)
HP:0001852 Sandal gap Occasional (29-5%)
HP:0001863 Toe clinodactyly Occasional (29-5%)
HP:0001869 Deep plantar creases Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002230 Generalized hirsutism Occasional (29-5%)
HP:0002804 Arthrogryposis multiplex congenita Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0003077 Hyperlipidemia Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0006191 Deep palmar crease Occasional (29-5%)
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis Occasional (29-5%)
HP:0100716 Self-injurious behavior 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