10q22.3q23.3 microduplication syndrome

10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.



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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000288 Abnormality of the philtrum Frequent (79-30%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000308 Microretrognathia Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000601 Hypotelorism Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002357 Dysphasia Frequent (79-30%)
HP:0002381 Aphasia Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000389 Chronic otitis media Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000889 Abnormality of the clavicle Occasional (29-5%)
HP:0001636 Tetralogy of Fallot 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