| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
10508988 |
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. Verloes A, Hermanns-Le T, Lesenfants S, Lombet J, Lamotte PJ, Crevecoeur-Liegeois C, Duchesne B, Pierard GE. Am J Med Genet. 1999;86(5):454-8. |
| Micrognathia Absent eyelashes Brachydactyly | ||
| Adult Congenital Nonbullous Ichthyosiform Erythroderma Females Homo sapiens Infant, Newborn Male Pigmentation Disorders Skin Abnormalities Syndrome | ||
| 2 (57.8%) |
1642279 |
A severe case of mandibuloacral dysplasia in a girl. Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J. Am J Med Genet. 1992;43(5):877-81. |
| Micrognathia | ||
| Bone Diseases, Developmental Differential Diagnosis Females Homo sapiens Mandible Syndrome Tarsal Bones | ||
| 3 (52.1%) |
3970067 |
Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son. Krauss CM, Herman TE, Holmes LB. Am J Med Genet. 1985;20(1):159-63. |
| Telecanthus Clinodactyly | ||
| SON | ||
| Bone Diseases, Developmental Bone and Bones Congenital Foot Deformity Homo sapiens Infant Male Middle Aged Strabismus Syndrome | ||
| 4 (42.3%) |
23678273 (3653094) |
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. Ko JM, Choi IH, Baek GH, Kim KW. J Korean Med Sci. 2013;28(5):780-3. |
| Triangular face Downslanted palpebral fissures Congenital contracture | ||
| MYH3 TPM2 | ||
| p|SUB|R|133|W;RS#:137853305 | ||
| Alleles Arthrogryposis Asians Exons Females Homo sapiens Infant, Newborn Mutation Phenotype Sequence Analysis, DNA South Korea Tropomyosin | ||
| 5 (38.2%) |
8074148 |
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. Suri M, Kabra M, Verma IC. Am J Med Genet. 1994;51(3):222-3. |
| Long philtrum Telecanthus | ||
| Blepharophimosis External Ear Homo sapiens Infant Male Microstomia Syndrome | ||
| 6 (4.0%) |
2240046 |
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. Chitayat D, Hall JG, Couch RM, Phang MS, Baldwin VJ. Am J Med Genet. 1990;37(1):65-70. |
| Hypopituitarism | ||
| GH1 | ||
| Arthrogryposis Child Face Females Genes, Recessive Growth Disorders Homo sapiens Hypopituitarism Infant Intellectual Disability Male Syndrome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000325 | Triangular face | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0005272 | Prominent nasolabial fold | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0040075 | Hypopituitarism | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|