Non-distal trisomy 13q

Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.



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

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000243 Trigonocephaly Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000499 Abnormal eyelash morphology Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0001028 Hemangioma Very frequent (99-80%)
HP:0002916 Abnormality of chromosome segregation Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001162 Postaxial hand polydactyly Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0001800 Hypoplastic toenails Frequent (79-30%)
HP:0100790 Hernia Frequent (79-30%)
HP:0008056 Aplasia/Hypoplasia affecting the eye 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