16p11.2p12.2 microdeletion syndrome

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.



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

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000389 Chronic otitis media Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000194 Open mouth Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000308 Microretrognathia Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0007328 Impaired pain sensation Frequent (79-30%)
HP:0007565 Multiple cafe-au-lait spots Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000276 Long face Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000414 Bulbous nose Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0002360 Sleep disturbance Occasional (29-5%)
HP:0003189 Long nose Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0004279 Short palm Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0005285 Absent nasal bridge Occasional (29-5%)
HP:0009623 Proximal placement of thumb Occasional (29-5%)
HP:0010535 Sleep apnea Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0100033 Tics 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