| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.0%) |
12966527 |
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. Megarbane A, Ghanem I, Le Merrer M. Am J Med Genet A. 2003;122A(3):252-6. |
| Macrocephaly Hip dislocation Irregular epiphyses | ||
| rs757545358 | ||
| Child Homo sapiens Joint Instability Male Osteochondrodysplasias Syndrome | ||
| 2 (37.5%) |
25256152 |
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. Tuysuz B, Ylmaz S, Erener-Ercan T, Bilguvar K, Gunel M. Pediatr Radiol. 2015;45(5):771-6. |
| Epiphyseal dysplasia Slender metacarpals | ||
| KIF22 | ||
| p|SUB|P|148|L;RS#:193922921 rs757545358 | ||
| Child DNA-Binding Proteins Females Femur Homo sapiens Joint Instability Kinesin Mutation Osteochondrodysplasias Single Nucleotide Polymorphism | ||
| 3 (21.2%) |
17676604 |
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. Park SM, Hall CM, Gray R, Firth HV. Am J Med Genet A. 2007;143A(17):2024-8. |
| Joint laxity Spondyloepimetaphyseal dysplasia | ||
| rs757545358 | ||
| Adult Airway Obstruction Females Genes, Dominant Homo sapiens Infant Male Osteochondrodysplasias | ||
| 3 (21.2%) |
9678701 |
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. Hall CM, Elcioglu NH, Shaw DG. J Med Genet. 1998;35(7):566-72. |
| Joint laxity Skeletal dysplasia | ||
| rs757545358 | ||
| Adult Child Females Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype |
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0002827 | Hip dislocation | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003025 | Metaphyseal irregularity | Very frequent (99-80%) |
| HP:0003370 | Flat capital femoral epiphysis | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006236 | Slender metacarpals | Very frequent (99-80%) |
| HP:0009164 | Abnormal calcification of the carpal bones | Very frequent (99-80%) |
| HP:0011849 | Abnormal bone ossification | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000445 | Wide nose | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001602 | Laryngeal stenosis | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002164 | Nail dysplasia | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003045 | Abnormal patella morphology | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0005107 | Abnormal sacrum morphology | Frequent (79-30%) |
| HP:0008755 | Laryngotracheomalacia | Frequent (79-30%) |
| HP:0100625 | Enlarged thorax | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 1 |