| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.8%) |
25432227 |
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Singh A, Tekin M, Falcone M, Kapoor S. Indian Pediatr. 2014;51(11):919-20. |
| Microdontia Genu valgum | ||
| FGF3 | ||
| Congenital Microtia Deafness Females Fibroblast Growth Factor 3 Homo sapiens Labyrinth Rickets Tooth Abnormalities | ||
| 2 (27.8%) |
21480479 |
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. Am J Med Genet A. 2011;155A(5):1096-101. |
| Microdontia | ||
| FGF3 | ||
| p|FS|W|153|V|51;RS#:281860307 p|SUB|R|104|X;RS#:121917704 p|SUB|Y|106|C;RS#:281860306 p|SUB|Y|49|C;RS#:281860300 rs121917704 rs281860300 rs281860306 rs281860307 | ||
| Ear Diseases Females Fibroblast Growth Factor 3 Heterozygote Homo sapiens Male Mutation Syndrome | ||
| 3 (4.0%) |
21752681 |
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Dill P, Schneider J, Weber P, Trachsel D, Tekin M, Jakobs C, Thony B, Blau N. Mol Genet Metab. 2011;104(3):362-8. |
| Seizure | ||
| FGF3 FOLR1 | ||
| p|SUB|C|50|X;RS#:281860301 p|SUB|R|204|X | ||
| Base Sequence Child Codon, Nonsense Congenital Abnormality Congenital Microtia DNA Primers Dopa Electroencephalography Epilepsy Fibroblast Growth Factor 3 Folate Receptor 1 Folic Acid Deficiency Homo sapiens Labyrinth Male Molecular Sequence Data Sequence Analysis, DNA Syndrome Tooth Abnormalities |
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000687 | Widely spaced teeth | Very frequent (99-80%) |
| HP:0000691 | Microdontia | Very frequent (99-80%) |
| HP:0000698 | Conical tooth | Very frequent (99-80%) |
| HP:0001291 | Abnormal cranial nerve morphology | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0011372 | Aplasia of the inner ear | Very frequent (99-80%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000307 | Pointed chin | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000098 | Tall stature | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000448 | Prominent nose | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0008499 | High hypermetropia | Occasional (29-5%) |
| HP:0010609 | Skin tags | Occasional (29-5%) |
| HP:0011069 | Increased number of teeth | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000691 | Microdontia | 2 |