Distal monosomy 6p

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 15654696
 Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Ades LC.
Am J Med Genet A. 2005;132A(4):381-5.
Hydrocephalus
FOXC1
Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 6 Eye Abnormalities Face Homo sapiens Infant Male Syndrome Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000593 Abnormal anterior chamber morphology Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000627 Posterior embryotoxon Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0007676 Hypoplasia of the iris Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0008499 High hypermetropia Frequent (79-30%)
HP:0011483 Anterior synechiae of the anterior chamber Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0001773 Short foot Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0003422 Vertebral segmentation defect Occasional (29-5%)
HP:0004279 Short palm Occasional (29-5%)
HP:0005930 Abnormality of epiphysis morphology Occasional (29-5%)
HP:0009918 Ectopia pupillae 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