| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (54.4%) |
6829602 |
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C. Am J Med Genet. 1983;14(1):139-47. |
| Brachycephaly Choanal stenosis Slender finger | ||
| Congenital Heart Defects Craniosynostosis Face Females Genes, Recessive Homo sapiens Infant, Newborn Kidney Pregnancy Syndrome Ultrasonography | ||
| 2 (48.8%) |
8669448 |
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome? Samson G, Gardner JC. Am J Med Genet. 1996;61(2):174-7. |
| Microcephaly Oligodactyly | ||
| Craniosynostosis Homo sapiens Hydranencephaly Infant, Newborn Male Microcephaly Syndrome X-Ray Computed Tomography | ||
| 3 (45.9%) |
2669480 |
Humero-radial synostosis with ulnar defects in sibs. Ramer JC, Ladda RL. Am J Med Genet. 1989;33(2):176-9. |
| Nephritis Patellar hypoplasia | ||
| Child, Preschool Females Genes, Recessive Homo sapiens Infant Male | ||
| 4 (44.7%) |
17304553 |
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. Al-Hassnan ZN, Teebi AS. Am J Med Genet A. 2007;143A(6):521-7. |
| Epicanthus inversus Cranium bifidum occultum | ||
| Child, Preschool Craniofacial Abnormalities Craniosynostosis Females Genes, Recessive Homo sapiens Limb Deformities, Congenital Sibling Syndrome | ||
| 5 (39.0%) |
18553517 |
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. Guilherme R, Baumann C, Garel C, Huten Y, Oury JF, Delezoide AL. Am J Med Genet A. 2008;146A(14):1775-80. |
| Microcephaly | ||
| Adult Females Genes, Recessive Genetic Diseases, X-Linked Homo sapiens Male Male Genital Organs Microcephaly Phenotype Pregnancy Sibling Syndrome | ||
| 6 (31.0%) |
29427337 |
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly. McVeigh TP, Soye JA, Gordon E, Lynch SA. Am J Med Genet A. 2018;176(5):1180-1183. |
| Syndactyly | ||
| Chromosome Breakage Homo sapiens Infant Male Phenotype Upper Extremity Deformities, Congenital | ||
| 7 (29.2%) |
24149 |
[2 cases of congenital humero-radial synostosis]. Solyom L. Magy Traumatol Orthop Helyreallito Seb. 1978;21(1):60-2. |
| Hip dislocation | ||
| Females Homo sapiens Infant Male |
Total: 11
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0003070 | Elbow ankylosis | Very frequent (99-80%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0002435 | Meningocele | Occasional (29-5%) |
| HP:0003019 | Abnormality of the wrist | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
| HP:0008368 | Tarsal synostosis | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000123 | Nephritis | 1 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000452 | Choanal stenosis | 1 |
| HP:0000520 | Proptosis | 1 |
| HP:0001238 | Slender finger | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002868 | Narrow iliac wings | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0003065 | Patellar hypoplasia | 1 |
| HP:0009879 | Simplified gyral pattern | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0200012 | Short corpus callosum | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|