| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.2%) |
27075689 |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Am J Med Genet A. 2016;170(7):1863-7. |
| Anteverted nares Ulnar deviation of the hand | ||
| ASXL1 ASXL3 | ||
| rs1555742087 rs1555742500 rs1555743003 rs1555743005 rs1555744282 | ||
| Child, Preschool Craniosynostosis Developmental Disabilities Exome Females Gene Expression Regulation Heterozygote Homo sapiens Intellectual Disability Mutation Phenotype RNA Splicing | ||
| 2 (46.2%) |
27901041 |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Kuechler A, Czeschik JC, Graf E, Grasshoff U, Huffmeier U, Busa T, Beck-Woedl S, Faivre L, Riviere JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Ludecke HJ, Wieczorek D. Eur J Hum Genet. 2017;25(2):183-191. |
| Trigonocephaly Downslanted palpebral fissures High, narrow palate | ||
| ASXL3 | ||
| rs1555742087 rs1555742500 rs1555743005 rs1555744282 | ||
| Child, Preschool Developmental Disabilities Failure to Thrive Females Homo sapiens Infant Male Mutation Phenotype Syndrome | ||
| 3 (39.0%) |
29074562 |
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. J Med Genet. 2017;54(12):830-835. |
| Microcephaly | ||
| CRLF1 KLHL7 | ||
| Autoantigens Brain Child, Preschool Craniosynostosis Facies Females Genes, Recessive Genetic Association Studies Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Mutation Phenotype Young Adult | ||
| 3 (39.0%) |
19606480 |
Evolution of a patient with Bohring-Opitz syndrome. Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F. Am J Med Genet A. 2009;149A(8):1754-7. |
| Microcephaly | ||
| Cervical Vertebrae Child Child, Preschool Congenital Hand Deformities Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Syndrome | ||
| 3 (39.0%) |
17847009 |
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Am J Hum Genet. 2007;81(4):835-41. |
| Trigonocephaly | ||
| CD96 | ||
| c|SUB|C|839|T;RS#:119477056 p|SUB|T|280|M;RS#:119477056 rs119477056 rs200703204 | ||
| Animals Base Sequence CD Antigens Cell Adhesion Chromosomes, Human, Pair 3 Craniofacial Abnormalities DNA Primers Females Fluorescent in Situ Hybridization Gene Expression Homo sapiens Male Missense Mutation Mus Mutation Phenotype Syndrome | ||
| 3 (39.0%) |
10405439 |
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. Am J Med Genet. 1999;85(5):438-46. |
| Trigonocephaly | ||
| Brain Craniofacial Abnormalities Females Homo sapiens Infant Male Syndrome | ||
| 7 (36.6%) |
16691589 |
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. Am J Med Genet A. 2006;140(12):1257-63. |
| Hypertelorism Upslanted palpebral fissure Cleft lip | ||
| Cleft Palate Craniofacial Abnormalities Exophthalmos Fatal Outcome Females Forehead Homo sapiens Infant Infant, Newborn Male Syndrome | ||
| 8 (4.0%) |
31041292 |
Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. Verma B, Abhinay A, Singh A, Kumar M. J Family Med Prim Care. 2019;8(3):1279-1281. |
| Seizure | ||
| 8 (4.0%) |
29681105 |
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T. Am J Med Genet A. 2018;176(5):1245-1248. |
| Hypertelorism | ||
| ASXL1 | ||
| c|DUP|1934|G| | ||
| Alleles Amino Acid Substitution Craniosynostosis DNA Copy Number Variations Females Homo sapiens Infant, Newborn Intellectual Disability Mutation Persistent Fetal Circulation Syndrome Phenotype Repressor Proteins Ultrasonography | ||
| 8 (4.0%) |
29305346 (5983172) |
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Cold Spring Harb Mol Case Stud. 2018;4(3):. |
| Intellectual disability | ||
| ASXL3 | ||
| p|SUB|R|1036|X rs1131691668 | ||
| Codon, Nonsense Developmental Disabilities Females Genetic Association Studies Genome-Wide Association Study Homo sapiens Phenotype Sibling Syndrome Whole Exome Sequencing |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000243 | Trigonocephaly | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000998 | Hypertrichosis | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0004422 | Biparietal narrowing | Very frequent (99-80%) |
| HP:0005487 | Prominent metopic ridge | Very frequent (99-80%) |
| HP:0007413 | Nevus flammeus of the forehead | Very frequent (99-80%) |
| HP:0009465 | Ulnar deviation of finger | Very frequent (99-80%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0100874 | Thick hair | Very frequent (99-80%) |
| HP:0000191 | Accessory oral frenulum | Frequent (79-30%) |
| HP:0000204 | Cleft upper lip | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000488 | Retinopathy | Frequent (79-30%) |
| HP:0000593 | Abnormal anterior chamber morphology | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0000926 | Platyspondyly | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001522 | Death in infancy | Frequent (79-30%) |
| HP:0001732 | Abnormality of the pancreas | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002558 | Supernumerary nipple | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002566 | Intestinal malrotation | Frequent (79-30%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0010306 | Short thorax | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001773 | Short foot | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000316 | Hypertelorism | 3 |
| HP:0001508 | Failure to thrive | 3 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0011968 | Feeding difficulties | 2 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0001052 | Nevus flammeus | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001525 | Severe failure to thrive | 1 |
| HP:0007413 | Nevus flammeus of the forehead | 1 |
| HP:0011604 | Aortopulmonary window | 1 |
| HP:0410030 | Cleft lip | 1 |