17q12 microduplication syndrome

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.



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

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0002539 Cortical dysplasia Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0002463 Language impairment Occasional (29-5%)
HP:0002575 Tracheoesophageal fistula Occasional (29-5%)
HP:0003468 Abnormal vertebral morphology Occasional (29-5%)
HP:0006101 Finger syndactyly 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