| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
19324102 |
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb. Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A. Eur J Med Genet. 2009;52(2-3):131-3. |
| Microcephaly Clinodactyly of the 2nd toe | ||
| CCDC50 OPA1 | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 3 Females Growth Disorders Homo sapiens Psychomotor Disorders | ||
| 2 (39.0%) |
29501613 |
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region. Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Eur J Med Genet. 2018;61(8):428-433. |
| Microcephaly | ||
| 3-Hydroxybutyrate Dehydrogenase Adaptor Proteins, Signal Transducing Child Chromosomal Duplication Discs Large Homolog 1 Protein Females Gray Matter Homo sapiens Male Membrane Proteins Transferrin Receptor | ||
| 2 (39.0%) |
20197726 |
[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization]. Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO. Korean J Lab Med. 2010;30(1):70-5. |
| Microcephaly | ||
| DLG1 H3F3AP6 HES1 MELTF PAK2 | ||
| Adaptor Proteins, Signal Transducing Basic Helix-Loop-Helix Transcription Factors Chromosome Deletion Chromosomes, Human, Pair 3 Discs Large Homolog 1 Protein Diseases in Twins Females Fluorescent in Situ Hybridization Homeodomain Proteins Homo sapiens Melanoma-Specific Antigens Membrane Proteins Oligonucleotide Array Sequence Analysis Syndrome Transcription Factor HES-1 p21-Activated Kinases | ||
| 4 (35.4%) |
20832509 |
1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child. Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW. Eur J Med Genet. 2010;53(6):415-8. |
| Autism Long fingers | ||
| Autistic Disorder Child Chromosome Deletion Chromosomes, Human, Pair 3 Fluorescent in Situ Hybridization Homo sapiens Intelligence Male Phenotype | ||
| 4 (35.4%) |
20830797 |
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Am J Med Genet A. 2010;152A(10):2459-67. |
| Autism Tapered finger | ||
| DLG1 PAK2 PTEN | ||
| Adult Autistic Disorder Bipolar Disorder Child Chromosome Mapping Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Oligonucleotide Array Sequence Analysis PTEN Phosphohydrolase Paternal Age Phenotype Psychotic Disorders Sequence Deletion Synapses Syndrome | ||
| 6 (33.7%) |
20453639 |
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. Clayton-Smith J, Giblin C, Smith RA, Dunn C, Willatt L. Clin Dysmorphol. 2010;19(3):128-32. |
| Long face Short philtrum | ||
| Bipolar Disorder Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 3 Family Females Fluorescent in Situ Hybridization Homo sapiens Male Pregnancy Syndrome | ||
| 7 (30.8%) |
20500065 (2964377) |
A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications. Petrin AL, Daack-Hirsch S, L'Heureux J, Murray JC. Cleft Palate Craniofac J. 2011;48(2):222-30. |
| Oral cleft | ||
| Chromosome Deletion Chromosomes, Human, Pair 3 Cleft Palate Developmental Disabilities Homo sapiens Infant Intellectual Disability Male Mosaicism Oligonucleotide Array Sequence Analysis Phenotype Philippines Real-Time Polymerase Chain Reaction Single Nucleotide Polymorphism | ||
| 8 (4.0%) |
30885185 |
Familial inheritance of the 3q29 microdeletion syndrome: case report and review. Khan WA, Cohen N, Scott SA, Pereira EM. BMC Med Genomics. 2019;12(1):51. |
| Psychosis | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 3 DNA Copy Number Variations Developmental Disabilities Females Homo sapiens Intellectual Disability Male Risk | ||
| 8 (4.0%) |
29653001 |
[Genetic analysis of two fetuses with congenital heart defects and 3q microdeletion]. Long W, Gu J, Ouyang J, Jia S, Zhang B, Liu J, Yu B. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(2):240-243. |
| Ventricular septal defect | ||
| Chromosome Deletion Chromosomes, Human, Pair 3 Congenital Heart Defects DNA Copy Number Variations Females Homo sapiens Pregnancy | ||
| 8 (4.0%) |
25714563 (5125389) |
A clinical case report and literature review of the 3q29 microdeletion syndrome. Cox DM, Butler MG. Clin Dysmorphol. 2015;24(3):89-94. |
| Autism | ||
| Autism Spectrum Disorders Chromosome Deletion Chromosomes, Human, Pair 3 Craniofacial Abnormalities Developmental Disabilities Genetic Association Studies Homo sapiens Intellectual Disability Male |
Total: 44
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000275 | Narrow face | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000678 | Dental crowding | Occasional (29-5%) |
| HP:0000709 | Psychosis | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000718 | Aggressive behavior | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001182 | Tapered finger | Occasional (29-5%) |
| HP:0001288 | Gait disturbance | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001611 | Nasal speech | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001682 | Subvalvular aortic stenosis | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0007302 | Bipolar affective disorder | Occasional (29-5%) |
| HP:0008416 | Six lumbar vertebrae | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 2 |
| HP:0000717 | Autism | 2 |
| HP:0007018 | Attention deficit hyperactivity disorder | 2 |
| HP:0000202 | Oral cleft | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0001249 | Intellectual disability | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|