| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.8%) |
27991732 |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Kosaki R, Terashima H, Kubota M, Kosaki K. Am J Med Genet A. 2017;173(1):250-253. |
| Round face Umbilical hernia Narrow palpebral fissure | ||
| DNMT3A | ||
| p|SUB|R|882|H;RS#:147001633 | ||
| Amino Acid Substitution Child, Preschool DNA (Cytosine-5-)-Methyltransferase DNA Methylation DNA Mutational Analysis Females Genetic Association Studies Growth Charts High-Throughput Nucleotide Sequencing Homo sapiens Leukemia, Myelocytic, Acute Mutation Phenotype Syndrome |
Total: 40
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0011407 | Proportionate tall stature | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0002751 | Kyphoscoliosis | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000311 | Round face | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001382 | Joint hypermobility | Occasional (29-5%) |
| HP:0001566 | Widely-spaced maxillary central incisors | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001831 | Short toe | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0008094 | Widely spaced toes | Occasional (29-5%) |
| HP:0010864 | Intellectual disability, severe | Occasional (29-5%) |
| HP:0045025 | Narrow palpebral fissure | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
| HP:0000303 | Mandibular prognathia | Very rare (4-1%) |
| HP:0000316 | Hypertelorism | Very rare (4-1%) |
| HP:0000718 | Aggressive behavior | Very rare (4-1%) |
| HP:0001537 | Umbilical hernia | Very rare (4-1%) |
| HP:0001643 | Patent ductus arteriosus | Very rare (4-1%) |
| HP:0001653 | Mitral regurgitation | Very rare (4-1%) |
| HP:0002000 | Short columella | Very rare (4-1%) |
| HP:0002002 | Deep philtrum | Very rare (4-1%) |
| HP:0002616 | Aortic root aneurysm | Very rare (4-1%) |
| HP:0003508 | Proportionate short stature | Very rare (4-1%) |
| HP:0005180 | Tricuspid regurgitation | Very rare (4-1%) |
| HP:0007302 | Bipolar affective disorder | Very rare (4-1%) |
| HP:0011688 | Supraventricular tachycardia with an accessory connection mediated pathway | Very rare (4-1%) |
| HP:0012324 | Myeloid leukemia | Very rare (4-1%) |
| HP:0100634 | Neuroendocrine neoplasm | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|