Proximal 16p11.2 microdeletion syndrome

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.



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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: 32

HPO ID Term Frequency
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002463 Language impairment Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000717 Autism Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000528 Anophthalmia Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000588 Optic nerve coloboma Occasional (29-5%)
HP:0000709 Psychosis Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001161 Hand polydactyly Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001659 Aortic regurgitation Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002021 Pyloric stenosis Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002937 Hemivertebrae Occasional (29-5%)
HP:0003396 Syringomyelia Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SH2B1 SH2B adaptor protein 1 25970