| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
9182778 |
New insights into the phenotypes of 6q deletions. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Am J Med Genet. 1997;70(4):377-86. |
| Micrognathia Upslanted palpebral fissure | ||
| Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Females Growth Disorders Homo sapiens Male Phenotype | ||
| 2 (57.8%) |
16948941 |
Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy. Cerminara C, Bombardieri R, Pinci M, Seri S, Curatolo P. J Child Neurol. 2006;21(6):527-31. |
| Microcephaly Micrognathia | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 6 Epilepsy Females Homo sapiens | ||
| 3 (39.0%) |
30439704 |
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey. Paulraj P, Palumbos JC, Openshaw A, Carey JC, Toydemir RM. Cytogenet Genome Res. 2018;156(4):191-196. |
| Microcephaly | ||
| ARID1B ZDHHC14 | ||
| Acyltransferase Child Chromosome Deletion Chromosomes, Human, Pair 6 Congenital Abnormality DNA-Binding Proteins Developmental Disabilities Homo sapiens Male Oligonucleotide Array Sequence Analysis Single Nucleotide Polymorphism | ||
| 3 (39.0%) |
26754677 |
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Am J Med Genet A. 2016;170A(5):1257-61. |
| Microcephaly | ||
| ARID1B ZDHHC14 | ||
| Acyltransferase Child Chromosomes, Human, Pair 6 Corpus Callosum DNA-Binding Proteins Females Gene Deletion Homo sapiens Intellectual Disability Speech-Language Pathology | ||
| 3 (39.0%) |
22585544 |
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D. Am J Med Genet A. 2012;158A(6):1395-9. |
| Microcephaly | ||
| Brain Chromosome Deletion Chromosomes, Human, Pair 6 Facies Fluorescent in Situ Hybridization Homo sapiens Infant Male Syndrome | ||
| 6 (4.0%) |
23853188 |
Acute visceral obstruction. Mabbutt SE, Burdall OC, Kariyawasam S. BMJ Case Rep. 2013;2013:. |
| Volvulus | ||
| Adult Females Homo sapiens Spleen Stomach Volvulus | ||
| 6 (4.0%) |
10528241 |
Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS. Am J Med Genet. 1999;87(1):17-22. |
| Autism | ||
| TBP | ||
| Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Females Fluorescent in Situ Hybridization Homo sapiens Infant Infant, Newborn Intellectual Disability Male | ||
| 6 (4.0%) |
8527397 |
Chromosomes in gliomatosis cerebri. Hecht BK, Turc-Carel C, Chatel M, Lonjon M, Roche JL, Gioanni J, Hecht F, Gaudray P. Genes Chromosomes Cancer. 1995;14(2):149-53. |
| Neoplasm | ||
| Brain Neoplasms Child Chromosome Aberrations Chromosome Deletion Chromosome Mapping Fluorescent in Situ Hybridization Glioma Homo sapiens Magnetic Resonance Imaging Male | ||
| 6 (4.0%) |
3487275 |
De novo del(6)(q25) associated with macular degeneration. Rivas F, Ruiz C, Rivera H, Moller M, Serrano-Lucas JI, Cantu JM. Ann Genet. 1986;29(1):42-4. |
| Macular degeneration | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, 6-12 and X Females Homo sapiens Infant | ||
| 6 (4.0%) |
1951444 |
Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2. Narahara K, Tsuji K, Yokoyama Y, Namba H, Murakami M, Matsubara T, Kasai R, Fukushima Y, Seki T, Wakui K, et al.. Am J Med Genet. 1991;40(3):348-53. |
| Noncommunicating hydrocephalus | ||
| FUCA2 | ||
| Adult Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 6 Fucosidase Homo sapiens Infant, Newborn Male |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000377 | Abnormality of the pinna | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001357 | Plagiocephaly | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0012639 | Abnormality of nervous system morphology | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001319 | Neonatal hypotonia | Occasional (29-5%) |
| HP:0001838 | Rocker bottom foot | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0003241 | External genital hypoplasia | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0004322 | Short stature | 1 |