| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (42.7%) |
28583501 |
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. Oliver JD, Menapace DC, Cofer SA. Int J Pediatr Otorhinolaryngol. 2017;98:4-8. |
| Retrognathia | ||
| FGFR1 | ||
| Child Child, Preschool Cleft Palate Congenital Hand Deformities Fibroblast Growth Factor Receptor 1 Fingers Holoprosencephaly Homo sapiens Infant Infant, Newborn Intellectual Disability Male Mutation Sibling | ||
| 2 (30.8%) |
22887648 |
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K. Am J Med Genet A. 2012;158A(10):2537-41. |
| Oral cleft | ||
| SLC25A43 SLC25A5 | ||
| Child Chromosomal Duplication Chromosomes, Human, X Cleft Palate Congenital Hand Deformities DNA Copy Number Variations Fingers Holoprosencephaly Homo sapiens Intellectual Disability Limb Deformities, Congenital Magnetic Resonance Imaging Male | ||
| 3 (26.3%) |
25339597 (4412513) |
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene. Sowinska-Seidler A, Piwecka M, Olech E, Socha M, Latos-Bielenska A, Jamsheer A. J Appl Genet. 2015;56(2):177-84. |
| Hypogonadism Anosmia | ||
| ANOS1 FGFR1 | ||
| Amino Acid Sequence Child Chromosomal Duplication Chromosomes, Human, X Extracellular Matrix Proteins Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Molecular Sequence Data Nerve Tissue Proteins Olfaction Disorders | ||
| 4 (4.0%) |
28825856 |
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC. J Dent Res. 2017;96(11):1339-1345. |
| Diabetes insipidus | ||
| FGFR1 | ||
| p|SUB|G|487|C | ||
| Adult Cleft Palate Congenital Hand Deformities Craniofacial Abnormalities Fibroblast Growth Factor Receptor 1 Fingers Genetic Association Studies Genotype Holoprosencephaly Homo sapiens Intellectual Disability Male Missense Mutation Phenotype |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0001363 | Craniosynostosis | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002084 | Encephalocele | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006870 | Lobar holoprosencephaly | Very frequent (99-80%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0100335 | Non-midline cleft lip | Very frequent (99-80%) |
| HP:0001171 | Split hand | Frequent (79-30%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Frequent (79-30%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000278 | Retrognathia | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |