| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.4%) |
23494856 |
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J. Am J Med Genet A. 2013;161A(4):835-40. |
| Brachydactyly Macrodontia | ||
| ANKRD11 | ||
| rs1221781038 rs146474985 rs1555524861 rs1555524870 rs1555526796 rs1555527497 rs1555528040 rs1555528357 rs1555528558 rs1555529052 rs1555529297 rs1555529572 rs1555529645 rs1555529726 rs1555529734 rs1555535454 rs878855327 rs886039477 rs886041125 rs886041791 | ||
| Bone Diseases, Developmental Chromosome Deletion Chromosomes, Human, Pair 16 Differential Diagnosis Facies Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Infant Intellectual Disability Male Mosaicism Phenotype Repressor Proteins Syndrome Tooth Abnormalities | ||
| 2 (48.8%) |
4073130 |
Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome? Filippi G. Am J Med Genet. 1985;22(4):821-4. |
| Microcephaly Syndactyly | ||
| Face Females Fingers Growth Disorders Homo sapiens Intellectual Disability Male Microcephaly Syndrome Toes | ||
| 3 (41.7%) |
7810561 |
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G. Am J Med Genet. 1994;52(3):302-7. |
| Microcephaly Macrodontia | ||
| Child Face Females Homo sapiens Intellectual Disability Male Syndactyly Syndrome Tooth Abnormalities | ||
| 4 (40.1%) |
15384099 |
Clinical variability in KBG syndrome: report of three unrelated families. Maegawa GH, Leite JC, Felix TM, da Silveira HL, da Silveira HE. Am J Med Genet A. 2004;131(2):150-4. |
| Cervical ribs Macrodontia | ||
| Adult Bone and Bones Brazil Child Cohort Studies Craniofacial Abnormalities Dwarfism Females Homo sapiens Intellectual Disability Male Syndrome Tooth Abnormalities | ||
| 5 (38.7%) |
31191201 |
Novel Mutations and Unreported Clinical Features in KBG Syndrome. Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L. Mol Syndromol. 2019;10(3):130-138. |
| Joint stiffness Macrodontia | ||
| 6 (37.2%) |
18822138 (2565666) |
The KBG syndrome: Case report. Morghen I, Ferri E. Cases J. 2008;1(1):186. |
| Short neck | ||
| 7 (27.8%) |
29224748 |
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. Bianchi PM, Bianchi A, Digilio MC, Tucci FM, Sitzia E, De Vincentiis GC. Int J Pediatr Otorhinolaryngol. 2017;103:109-112. |
| Intellectual disability Macrodontia | ||
| ANKRD11 | ||
| Audiometry Bone Diseases, Developmental Child Facies Females Homo sapiens Intellectual Disability Mutation Phenotype Repressor Proteins Tooth Abnormalities | ||
| 7 (27.8%) |
28422132 (5533198) |
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Eur J Hum Genet. 2017;25(6):694-701. |
| Astigmatism Macrodontia | ||
| rs1221781038 rs146474985 rs1555524861 rs1555524870 rs1555526796 rs1555527497 rs1555528040 rs1555528357 rs1555528558 rs1555529052 rs1555529297 rs1555529572 rs1555529645 rs1555529726 rs1555529734 rs1555535454 rs878855327 rs886039477 rs886041125 rs886041791 | ||
| Adult Bone Diseases, Developmental Cadherins Child Chromosome Deletion Chromosomes, Human, Pair 16 Differential Diagnosis Facies Females Haploinsufficiency Homo sapiens Intellectual Disability Male Nuclear Proteins Phenotype Repressor Proteins Tooth Abnormalities | ||
| 7 (27.8%) |
26187867 |
An unusual case of KBG syndrome with unique oral findings. Hafiz A, Mufeed A, Ismael M, Alam M. BMJ Case Rep. 2015;2015:. |
| Macrodontia | ||
| Bone Diseases, Developmental Child Facies Females Homo sapiens India Intellectual Disability Syndrome Tooth Abnormalities | ||
| 7 (27.8%) |
25833229 |
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. Reynaert N, Ockeloen CW, Savendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CE, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K. Horm Res Paediatr. 2015;83(5):361-4. |
| Intellectual disability Macrodontia | ||
| ANKRD11 GH1 GNRH1 | ||
| Bone Diseases, Developmental Child Facies Growth Disorders Homo sapiens Human Growth Hormone Intellectual Disability Male Tooth Abnormalities |
Total: 40
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000325 | Triangular face | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000465 | Webbed neck | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000574 | Thick eyebrow | Frequent (79-30%) |
| HP:0000637 | Long palpebral fissure | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0000677 | Oligodontia | Frequent (79-30%) |
| HP:0000891 | Cervical ribs | Frequent (79-30%) |
| HP:0000954 | Single transverse palmar crease | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001566 | Widely-spaced maxillary central incisors | Frequent (79-30%) |
| HP:0001572 | Macrodontia | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002942 | Thoracic kyphosis | Frequent (79-30%) |
| HP:0002948 | Vertebral fusion | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008513 | Bilateral conductive hearing impairment | Frequent (79-30%) |
| HP:0010720 | Abnormal hair pattern | Frequent (79-30%) |
| HP:0011842 | Abnormality of skeletal morphology | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0012725 | Cutaneous syndactyly | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0000311 | Round face | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002353 | EEG abnormality | Occasional (29-5%) |
| HP:0004474 | Persistent open anterior fontanelle | Occasional (29-5%) |
| HP:0045017 | Congenital malformation of the left heart | Occasional (29-5%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 16 |
| HP:0001572 | Macrodontia | 14 |
| HP:0001249 | Intellectual disability | 9 |
| HP:0000717 | Autism | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001263 | Global developmental delay | 3 |
| HP:0000483 | Astigmatism | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002373 | Febrile seizures | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0003510 | Severe short stature | 1 |
| HP:0011087 | Talon cusp | 1 |
| HP:0100584 | Endocarditis | 1 |