| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
30448833 |
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D. Cytogenet Genome Res. 2018;156(3):127-133. |
| Macrocephaly Postaxial polydactyly | ||
| EHMT1 | ||
| Brain Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Facies Genotype Histone-Lysine N-Methyltransferase Homo sapiens Infant Intellectual Disability Macrocephaly Magnetic Resonance Imaging Male Mutation Phenotype Polydactyly Toes | ||
| 2 (47.5%) |
23633410 |
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tumer Z. Am J Med Genet A. 2013;161A(6):1447-52. |
| Trigonocephaly Long philtrum | ||
| Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Craniosynostosis Developmental Disabilities Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Intellectual Disability Ring Chromosomes | ||
| 3 (44.8%) |
28057753 (5339767) |
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. J Biol Chem. 2017;292(9):3866-3876. |
| Brachycephaly Synophrys Protruding tongue | ||
| EHMT1 | ||
| c|SUB|C|2426|T;RS#:587780332 p|SUB|P|809|L;RS#:587780332 | ||
| Amino Acid Motifs Ankyrin Repeat Autism Spectrum Disorders Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Females Genomics Histone-Lysine N-Methyltransferase Homo sapiens Intellectual Disability Missense Mutation Molecular Dynamics Simulation Phenotype Spectrometry, Fluorescence | ||
| 4 (39.8%) |
28645799 |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Eur J Med Genet. 2017;60(9):451-464. |
| Bulbous nose Upslanted palpebral fissure Hypotonia | ||
| MED13L | ||
| p|SUB|D|860|G rs1555239936 rs1555240359 rs1555240361 rs1555240376 rs1555241424 rs1555243099 rs1555244216 rs1555246154 rs1555246952 rs1555247469 rs1555247853 rs1555247936 rs1555248020 rs752751372 rs777986630 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Differential Diagnosis Females Genotype Haploinsufficiency Homo sapiens Intellectual Disability Male Mediator Complex Missense Mutation Phenotype | ||
| 5 (39.0%) |
29228531 |
Kleefstra Syndrome: The First Case Report From Iran. Noruzinia M, Ahmadvand M, Bashti O, Salehi Chaleshtori AR. Acta Med Iran. 2017;55(10):650-654. |
| Brachycephaly | ||
| EHMT1 | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Iran Mutation | ||
| 6 (26.3%) |
26918030 (4766673) |
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. Hadzsiev K, Komlosi K, Czako M, Duga B, Szalai R, Szabo A, Postyeni E, Szabo T, Kosztolanyi G, Melegh B. Mol Cytogenet. 2016;9:22. |
| Hypertelorism Short nose | ||
| 7 (4.0%) |
30370152 (6189678) |
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Case Rep Endocrinol. 2018;2018:4283267. |
| Cryptorchidism | ||
| EHMT1 | ||
| 7 (4.0%) |
28622207 |
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JIM, Kleefstra T. Clin Neuropharmacol. 2017;40(4):185-188. |
| Intellectual disability | ||
| Antipsychotic Agents Chromosome Deletion Chromosomes, Human, Pair 9 Combination Drug Therapy Congenital Heart Defects Craniofacial Abnormalities Drug Administration Schedule Females Homo sapiens Intellectual Disability Severity of Illness Index Sleep Wake Disorders Time Factors Young Adult | ||
| 7 (4.0%) |
27966372 |
Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. Huang LY, Yang Y, He P, Li DZ. J Obstet Gynaecol. 2017;37(3):327-329. |
| Increased nuchal translucency | ||
| EHMT1 | ||
| Adult Chorionic Villi Sampling Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Male Pregnancy Pregnancy Trimester, First | ||
| 7 (4.0%) |
27651234 |
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. Bock I, Nemeth K, Pentelenyi K, Balicza P, Balazs A, Molnar MJ, Roman V, Nagy J, Levay G, Kobolak J, Dinnyes A. Gene. 2016;595(2):131-141. |
| Autism | ||
| DPP6 | ||
| p|SUB|R|322|C;RS#:374450077 p|SUB|W|1138|X rs145694621 rs886037776 | ||
| Autistic Disorder Child Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Females Haploinsufficiency High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Intellectual Disability Mutation Nonsense Mediated mRNA Decay |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002263 | Exaggerated cupid's bow | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0010804 | Tented upper lip vermilion | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000158 | Macroglossia | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000389 | Chronic otitis media | Frequent (79-30%) |
| HP:0000391 | Thickened helices | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0000718 | Aggressive behavior | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0000742 | Self-mutilation | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0001647 | Bicuspid aortic valve | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002360 | Sleep disturbance | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0011675 | Arrhythmia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000107 | Renal cyst | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000733 | Stereotypy | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001376 | Limitation of joint mobility | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002094 | Dyspnea | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0002558 | Supernumerary nipple | Occasional (29-5%) |
| HP:0002607 | Bowel incontinence | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0002779 | Tracheomalacia | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004415 | Pulmonary artery stenosis | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
| HP:0100790 | Hernia | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 4 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000054 | Micropenis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0010864 | Intellectual disability, severe | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0012368 | Flat face | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|