| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.7%) |
24715367 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Am J Med Genet A. 2014;164A(7):1821-5. |
| Blepharophimosis Short humerus | ||
| KAT6B KIF1BP MED12 | ||
| c|SUB|G|3443|A;RS#:387907360 p|SUB|R|1148|H;RS#:387907360 rs387907360 | ||
| Blepharophimosis Developmental Disabilities Genetic Association Studies Hirschsprung Disease Homo sapiens Infant, Newborn Male Mediator Complex Mutation Phenotype Sibling Syndrome | ||
| 2 (63.5%) |
19842190 |
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. Am J Med Genet A. 2009;149A(11):2469-78. |
| Micrognathia Upslanted palpebral fissure | ||
| rs121909833 | ||
| Adult Body Constitution Child Child, Preschool Facies Fatal Outcome Females Hand Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Mental Retardation, X-Linked Microcephaly Middle Aged Pregnancy | ||
| 3 (60.4%) |
27286923 |
Two male sibs with severe micrognathia and a missense variant in MED12. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Eur J Med Genet. 2016;59(8):367-72. |
| Pierre-Robin sequence Micrognathia | ||
| MED12 | ||
| c|SUB|G|1862|A p|SUB|R|621|Q | ||
| Exons Genes, X-Linked Genetic Association Studies Genotype Homo sapiens Infant Male Mediator Complex Micrognathism Missense Mutation Phenotype Severity of Illness Index Sibling Single Nucleotide Polymorphism X-Ray Computed Tomography | ||
| 4 (26.3%) |
17036352 |
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Munoz F. Am J Med Genet A. 2006;140(24):2807-11. |
| Narrow face | ||
| rs1292888378 rs1369442321 rs1556334519 rs1556334793 rs1556336534 rs1556337063 rs1556338747 rs1556340124 rs748064846 rs769232520 rs863223696 | ||
| Adult Craniofacial Abnormalities Homo sapiens Male Marfan Syndrome Mental Retardation, X-Linked Phenotype Psychopathology Syndrome | ||
| 5 (4.0%) |
28544239 |
A novel variant in MED12 gene: Further delineation of phenotype. Narayanan DL, Phadke SR. Am J Med Genet A. 2017;173(8):2257-2260. |
| Intellectual disability | ||
| MED12 | ||
| Anus, Imperforate Cell Proliferation Child, Preschool Constipation Craniofacial Abnormalities Face Genetic Association Studies Homo sapiens Intellectual Disability Male Marfan Syndrome Mediator Complex Mental Retardation, X-Linked | ||
| 5 (4.0%) |
28027854 |
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A. Eur J Paediatr Neurol. 2017;21(3):475-484. |
| Intellectual disability | ||
| ATRX FBN1 MECP2 | ||
| c|SUB|C|649|T;RS#:786205894 c|SUB|T|707|G p|SUB|F|236|C p|SUB|P|217|S;RS#:786205894 p|SUB|T|1020|A;RS#:111801777 | ||
| Child Craniofacial Abnormalities Exome Genes, X-Linked Genetic Predisposition to Disease Homo sapiens Intellectual Disability Male Marfan Syndrome Mental Retardation, X-Linked Mutation Phenotype Retrospective Studies Sequence Analysis, DNA alpha-Thalassemia | ||
| 5 (4.0%) |
27980443 (5138064) |
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. Khan A, Humayun M, Haider I, Ayub M. Clin Med Insights Case Rep. 2016;9:115-118. |
| Dysphagia | ||
| MED12 | ||
| 5 (4.0%) |
27500536 |
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F. Pediatr Res. 2016;80(6):809-815. |
| Intellectual disability | ||
| MED12 MED13L | ||
| Amino Acid Substitution Child Codon, Nonsense DNA Mutational Analysis High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Male Mediator Complex Missense Mutation Mutant Proteins Mutation Phenotype Syndrome Young Adult | ||
| 5 (4.0%) |
16760741 |
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. Alonso P, Pintos G, Almazan F, Hernandez L, Loran E, Menchon JM, Vallejo J. Clin Dysmorphol. 2006;15(3):181-4. |
| Hyperactivity | ||
| Adult Craniofacial Abnormalities Feeding and Eating Disorders Homo sapiens Intelligence Tests Joint Instability Learning Disabilities Male Marfan Syndrome Syndrome | ||
| 5 (4.0%) |
10508979 |
Aortic root dilation in apparent Lujan-Fryns syndrome. Wittine LM, Josephson KD, Williams MS. Am J Med Genet. 1999;86(5):405-9. |
| Ventricular septal defect | ||
| Adult Differential Diagnosis Face Homo sapiens Male Marfan Syndrome Pathological Dilatation Syndrome Ventricular Septal Defects |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001519 | Disproportionate tall stature | Very frequent (99-80%) |
| HP:0001608 | Abnormality of the voice | Very frequent (99-80%) |
| HP:0001611 | Nasal speech | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0000053 | Macroorchidism | Frequent (79-30%) |
| HP:0000275 | Narrow face | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000678 | Dental crowding | Occasional (29-5%) |
| HP:0000709 | Psychosis | Occasional (29-5%) |
| HP:0000738 | Hallucinations | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000752 | Hyperactivity | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0100753 | Schizophrenia | 1 |
| HP:0100962 | Shyness | 1 |