| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
24690526 |
Gomez-Lopez-Hernandez syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance? de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR. Pediatr Neurol. 2014;50(6):612-5. |
| Micrognathia Prominent forehead | ||
| PTPN14 | ||
| Alopecia Brain Cerebellum Craniofacial Abnormalities Genes, Recessive Growth Disorders Homo sapiens Imaging, Three-Dimensional Infant, Newborn Magnetic Resonance Imaging Male Neurocutaneous Syndromes X-Ray Computed Tomography | ||
| 2 (48.8%) |
9339873 |
Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): an unusual aberrant syngenetic complex. Sergi C, Hentze S, Sohn C, Voigtlander T, Jung C, Schmitt HP. Brain Dev. 1997;19(6):426-32. |
| Posterior fossa cyst Preaxial polydactyly | ||
| Adult Cerebral Ventricles Dandy-Walker Syndrome Females Homo sapiens Male Pregnancy Telencephalon | ||
| 3 (40.2%) |
24856766 |
Gomez-Lopez-Hernandez syndrome in a Japanese patient: a case report. Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J. Brain Dev. 2015;37(3):356-8. |
| Brachyturricephaly Midface retrusion | ||
| PTPN14 | ||
| Alopecia Cerebellum Child, Preschool Craniofacial Abnormalities Females Growth Disorders Homo sapiens Japan Magnetic Resonance Imaging Neurocutaneous Syndromes | ||
| 3 (40.2%) |
24311025 |
Gomez-Lopez-hernandez syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone. Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH. Am J Med Genet A. 2014;164A(2):480-3. |
| Brachyturricephaly Midface retrusion | ||
| PTPN14 | ||
| Alopecia Brain Cerebellum Craniofacial Abnormalities Facies Growth Disorders Homo sapiens Infant Magnetic Resonance Imaging Male Neurocutaneous Syndromes X-Ray Computed Tomography | ||
| 3 (40.2%) |
23292994 |
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Am J Med Genet A. 2013;161A(2):320-6. |
| Brachyturricephaly Midface retrusion | ||
| Alopecia Cerebellum Child Child, Preschool Corneal Diseases Craniofacial Abnormalities Females Growth Disorders Homo sapiens Hypesthesia Male Neurocutaneous Syndromes Phenotype | ||
| 6 (39.0%) |
30181940 |
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. Kotetishvili B, Makashvili M, Okujava M, Kotetishvili A, Kopadze T. Intractable Rare Dis Res. 2018;7(3):191-195. |
| Broad skull | ||
| 6 (39.0%) |
27487646 |
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. Balaban O, Tobias JD. Middle East J Anaesthesiol. 2016;23(5):581-5. |
| Brachycephaly | ||
| Alopecia Cerebellum Craniofacial Abnormalities Growth Disorders Homo sapiens Infant Male Neurocutaneous Syndromes Perioperative Care | ||
| 6 (39.0%) |
22802865 (3389961) |
Isolated rhomboencephalosynapsis - a rare cerebellar anomaly. Paprocka J, Jamroz E, Scieszka E, Kluczewska E. Pol J Radiol. 2012;77(1):47-9. |
| Microcephaly | ||
| 6 (39.0%) |
20029674 (2796237) |
Atypical craniosynostosis with torticollis and neurological symptoms: a rhombencephalosynapsis sequence. Koljonen V, Leikola J, Valanne L, Hukki J. Case Rep Med. 2009;2009:919463. |
| Scaphocephaly | ||
| 6 (39.0%) |
19664545 |
Truncal ataxia, hypotonia, and motor delay with isolated rhombencephalosynapsis. Kruer MC, Blasco PA, Anderson JC, Bardo DM, Pinter JD. Pediatr Neurol. 2009;41(3):229-31. |
| Microcephaly | ||
| Ataxia Cerebellum Developmental Disabilities Females Homo sapiens Infant Magnetic Resonance Imaging Microcephaly |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000238 | Hydrocephalus | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000308 | Microretrognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0002335 | Agenesis of cerebellar vermis | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0006899 | Fusion of the cerebellar hemispheres | Very frequent (99-80%) |
| HP:0100321 | Abnormality of the dentate nucleus | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0010664 | Fusion of the left and right thalami | Frequent (79-30%) |
| HP:0100842 | Septo-optic dysplasia | Frequent (79-30%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000271 | Abnormality of the face | Occasional (29-5%) |
| HP:0000478 | Abnormality of the eye | Occasional (29-5%) |
| HP:0000504 | Abnormality of vision | Occasional (29-5%) |
| HP:0001626 | Abnormality of the cardiovascular system | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002032 | Esophageal atresia | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0009803 | Short phalanx of finger | Occasional (29-5%) |
| HP:0009943 | Complete duplication of thumb phalanx | Occasional (29-5%) |
| HP:0010442 | Polydactyly | Occasional (29-5%) |
| HP:0012210 | Abnormal renal morphology | Occasional (29-5%) |
Total: 27
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0006899 | Fusion of the cerebellar hemispheres | 15 |
| HP:0031912 | Trigeminal anesthesia | 7 |
| HP:0000238 | Hydrocephalus | 4 |
| HP:0002119 | Ventriculomegaly | 3 |
| HP:0000486 | Strabismus | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0000473 | Torticollis | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001260 | Dysarthria | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001710 | Conotruncal defect | 1 |
| HP:0002078 | Truncal ataxia | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0002335 | Agenesis of cerebellar vermis | 1 |
| HP:0002410 | Aqueductal stenosis | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0006882 | Severe hydrocephalus | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011800 | Midface retrusion | 1 |
| HP:0100841 | Microgastria | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|