Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (37.5%) |
24975242 |
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, Unger S. Am J Med Genet A. 2014;164A(9):2147-52. |
Brachydactyly Lumbar kyphosis | ||
Adult Child Child, Preschool Females Hand Haplotypes Homo sapiens Infant Infant, Newborn Knee Male Pelvis Pregnancy |
Total: 26
HPO ID | Term | Frequency |
---|---|---|
HP:0000943 | Dysostosis multiplex | Obligate (100%) |
HP:0001252 | Muscular hypotonia | Obligate (100%) |
HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | Very frequent (99-80%) |
HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000369 | Low-set ears | Frequent (79-30%) |
HP:0000463 | Anteverted nares | Frequent (79-30%) |
HP:0000470 | Short neck | Frequent (79-30%) |
HP:0000924 | Abnormality of the skeletal system | Frequent (79-30%) |
HP:0001156 | Brachydactyly | Frequent (79-30%) |
HP:0001250 | Seizures | Frequent (79-30%) |
HP:0001508 | Failure to thrive | Frequent (79-30%) |
HP:0001799 | Short nail | Frequent (79-30%) |
HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
HP:0002370 | Poor coordination | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0002656 | Epiphyseal dysplasia | Frequent (79-30%) |
HP:0002808 | Kyphosis | Frequent (79-30%) |
HP:0008093 | Short 4th toe | Frequent (79-30%) |
HP:0011344 | Severe global developmental delay | Frequent (79-30%) |
HP:0011800 | Midface retrusion | Frequent (79-30%) |
HP:0001338 | Partial agenesis of the corpus callosum | Occasional (29-5%) |
HP:0001561 | Polyhydramnios | Occasional (29-5%) |
HP:0005792 | Short humerus | Occasional (29-5%) |
HP:0006385 | Short lower limbs | Occasional (29-5%) |
HP:0012537 | Food intolerance | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|