Distal 22q11.2 microduplication syndrome

Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.



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

Phenotype(s) retrieved from Orphanet

    Total: 57

HPO ID Term Frequency
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000122 Unilateral renal agenesis Occasional (29-5%)
HP:0000158 Macroglossia Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000319 Smooth philtrum Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000325 Triangular face Occasional (29-5%)
HP:0000337 Broad forehead Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000411 Protruding ear Occasional (29-5%)
HP:0000414 Bulbous nose Occasional (29-5%)
HP:0000445 Wide nose Occasional (29-5%)
HP:0000457 Depressed nasal ridge Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000588 Optic nerve coloboma Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001182 Tapered finger Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001618 Dysphonia Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001704 Tricuspid valve prolapse Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0001800 Hypoplastic toenails Occasional (29-5%)
HP:0001836 Camptodactyly of toe Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0002463 Language impairment Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0004422 Biparietal narrowing Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)
HP:0009738 Abnormality of the antihelix Occasional (29-5%)
HP:0009795 Branchial fistula Occasional (29-5%)
HP:0011039 Abnormality of the helix Occasional (29-5%)
HP:0012471 Thick vermilion border Occasional (29-5%)
HP:0100022 Abnormality of movement Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)
HP:0100540 Palpebral edema 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