Distal trisomy 18q

Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.



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

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000474 Thickened nuchal skin fold Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004622 Progressive intervertebral space narrowing Very frequent (99-80%)
HP:0006482 Abnormality of dental morphology Very frequent (99-80%)
HP:0010720 Abnormal hair pattern Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000055 Abnormality of female external genitalia Occasional (29-5%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0001176 Large hands Occasional (29-5%)
HP:0004097 Deviation of finger Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger 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