| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
29485808 |
Distal 13q monosomy and neural tube defects. Lurie IW, Novikova IV, Tarletskaya OA, Lazarevich AA, Gromyko OA. Genet Couns. 2016;27(2):177-86. |
| Encephalocele Oligodactyly | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Neural Tube Defects Pregnancy Ultrasonography, Prenatal | ||
| 2 (39.0%) |
22029167 |
Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review. Puvabanditsin S, Garrow E, Lambert G, Botti C, Gowda S, Kathiravan S, Brooks SS. Genet Couns. 2011;22(3):263-72. |
| Macrocephaly | ||
| Adult Anus, Imperforate Chromosome Deletion Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 13 Disorders of Sex Development Fatal Outcome Females Fetal Growth Retardation Holoprosencephaly Homo sapiens Infant, Newborn Male Oligonucleotide Array Sequence Analysis Preterm Infant Syndrome Trisomy | ||
| 2 (39.0%) |
20683983 |
Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). Mademont-Soler I, Morales C, Armengol L, Soler A, Sanchez A. Am J Med Genet A. 2010;152A(9):2308-12. |
| Dandy-Walker malformation | ||
| ZIC2 ZIC5 | ||
| Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 6 DNA-Binding Proteins Dandy-Walker Syndrome Females Homo sapiens Nuclear Proteins Phenotype Sequence Deletion | ||
| 2 (39.0%) |
15948192 |
Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations. Alanay Y, Aktas D, Utine E, Talim B, Onderoglu L, Caglar M, Tuncbilek E. Am J Med Genet A. 2005;136(3):265-8. |
| Dandy-Walker malformation | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 13 Dandy-Walker Syndrome Fatal Outcome Fetal Death Fetus Homo sapiens Male Syndrome | ||
| 5 (31.0%) |
23639964 |
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region. Yang YF, Ai Q, Huang C, Chen JL, Wang J, Xie L, Zhang WZ, Yang JF, Tan ZP. Gene. 2013;528(1):51-4. |
| Postaxial polydactyly | ||
| GAS6 GRK1 RASA3 TFDP1 | ||
| Chromosome Deletion Chromosomes, Human, Pair 13 Congenital Heart Defects DNA Copy Number Variations Gene Deletion Homo sapiens Intercellular Signaling Peptides and Proteins Male Polydactyly Receptors, Cytoplasmic and Nuclear Single Nucleotide Polymorphism Syndrome | ||
| 5 (31.0%) |
16691582 |
Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis. Christofolini DM, Yoshimoto M, Squire JA, Brunoni D, Melaragno MI, Carvalheira G. Am J Med Genet A. 2006;140(12):1321-5. |
| Oligodactyly | ||
| Chromosome Breakage Chromosomes, Human, Pair 13 Cytogenetic Analysis Fingers Fluorescent in Situ Hybridization Gene Deletion Gene Duplication Homo sapiens Hydrocephalus Infant Male Monosomy Nucleolus Organizer Region Toes Urogenital Abnormalities X-Ray Computed Tomography | ||
| 7 (4.0%) |
11223849 |
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. Walsh LE, Vance GH, Weaver DD. Am J Med Genet. 2001;98(2):137-44. |
| Tracheoesophageal fistula | ||
| Adult Chest Chromosome Deletion Chromosomes, Human, Pair 13 Cytogenetics Females Homo sapiens Infant, Newborn Syndrome Urethra | ||
| 7 (4.0%) |
9332662 |
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. Am J Med Genet. 1997;72(3):319-23. |
| Ambiguous genitalia | ||
| Chromosome Banding Chromosomes, Human, Pair 13 Congenital Heart Defects DNA Mutational Analysis Dinucleotide Repeats Gene Deletion Genetic Polymorphism Homo sapiens Male Microcephaly Phenotype Ring Chromosomes Short Tandem Repeat Syndrome |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001155 | Abnormality of the hand | Occasional (29-5%) |
| HP:0001163 | Abnormality of the metacarpal bones | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002323 | Anencephaly | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
| HP:0008207 | Primary adrenal insufficiency | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
| HP:0100589 | Urogenital fistula | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0030769 | Exencephaly | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|