| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.6%) |
21932316 |
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B. Am J Med Genet A. 2011;155A(11):2771-4. |
| Microcephaly Scapuloperoneal myopathy | ||
| FHL1 SLC9A6 | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, X Genetic Diseases, X-Linked Homo sapiens Intracellular Signaling Peptides and Proteins LIM Domain Proteins Male Mental Retardation, X-Linked Muscle Proteins Muscular Dystrophy, Emery-Dreifuss Mutation Physical Examination Sodium-Hydrogen Antiporter Syndrome | ||
| 2 (39.0%) |
30937176 |
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. Ieda D, Hori I, Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S. Hum Genome Var. 2019;6:15. |
| Microcephaly | ||
| SLC9A6 | ||
| c|SUB|C|1141-8|A | ||
| 2 (39.0%) |
30126759 |
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome? Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G. Eur J Paediatr Neurol. 2018;22(6):1124-1132. |
| Progressive microcephaly | ||
| CNKSR2 GRIN2A SLC9A6 | ||
| Ataxia Autistic Disorder Child Child, Preschool Electroencephalography Epilepsy Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Language Development Disorders Male Microcephaly Ocular Motility Disorders Sleep Status Epilepticus | ||
| 2 (39.0%) |
27256868 |
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. Am J Med Genet A. 2016;170(8):2103-10. |
| Microcephaly | ||
| SLC9A6 | ||
| c|DEL|526-9_526-5| rs796053290 | ||
| Adult Ataxia Brain Child DNA Mutational Analysis Epilepsy Facies Family Females Genetic Association Studies Genetic Diseases, X-Linked Heterozygote Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Mutation Ocular Motility Disorders Phenotype RNA Splice Sites Sequence Deletion Sodium-Hydrogen Antiporter | ||
| 2 (39.0%) |
24630051 |
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E. Epilepsy Res. 2014;108(4):811-5. |
| Microcephaly | ||
| SLC9A6 SLC9C2 | ||
| c|SUB|G|IVS10-1|A | ||
| Ataxia Child Epilepsy Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Male Microcephaly Mutation Ocular Motility Disorders Sleep Sodium-Hydrogen Antiporter Status Epilepticus | ||
| 2 (39.0%) |
24285247 |
Christianson syndrome: spectrum of neuroimaging findings. Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A. Neuropediatrics. 2014;45(4):247-51. |
| Microcephaly | ||
| SLC9A6 | ||
| Angelman Syndrome Ataxia Cerebellum Child Differential Diagnosis Epilepsy Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Mutation Ocular Motility Disorders Sodium-Hydrogen Antiporter | ||
| 2 (39.0%) |
20949524 (3698558) |
Natural history of Christianson syndrome. Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Stromme P, Stevenson RE, Stratton MR, Schwartz CE. Am J Med Genet A. 2010;152A(11):2775-83. |
| Microcephaly | ||
| SLC9A6 | ||
| Adult Child Child, Preschool Eye Movements Family Fatal Outcome Females Homo sapiens Infant Intelligence Tests Magnetic Resonance Imaging Male Mutation Pregnancy Sodium-Hydrogen Antiporter Syndrome | ||
| 8 (4.0%) |
29275387 |
Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation. Padmanabha H, Saini AG, Sahu JK, Singhi P. BMJ Case Rep. 2017;2017:. |
| Autism | ||
| SLC9A6 | ||
| Brain Cephalometry Child, Preschool Craniofacial Abnormalities Differential Diagnosis Drug Resistant Epilepsy Genetic Diseases, X-Linked Head Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Mutation Sodium-Hydrogen Antiporter Syndrome |
Total: 41
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000275 | Narrow face | Very frequent (99-80%) |
| HP:0000276 | Long face | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0001272 | Cerebellar atrophy | Very frequent (99-80%) |
| HP:0001344 | Absent speech | Very frequent (99-80%) |
| HP:0002078 | Truncal ataxia | Very frequent (99-80%) |
| HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
| HP:0002197 | Generalized-onset seizure | Very frequent (99-80%) |
| HP:0002376 | Developmental regression | Very frequent (99-80%) |
| HP:0002529 | Neuronal loss in central nervous system | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000602 | Ophthalmoplegia | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000733 | Stereotypy | Frequent (79-30%) |
| HP:0000748 | Inappropriate laughter | Frequent (79-30%) |
| HP:0000765 | Abnormality of the thorax | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001181 | Adducted thumb | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002066 | Gait ataxia | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002300 | Mutism | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0100024 | Conspicuously happy disposition | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Occasional (29-5%) |
| HP:0000366 | Abnormality of the nose | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0003199 | Decreased muscle mass | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0100613 | Death in early adulthood | Occasional (29-5%) |
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 4 |
| HP:0001251 | Ataxia | 4 |
| HP:0001250 | Seizures | 3 |
| HP:0011344 | Severe global developmental delay | 3 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001344 | Absent speech | 2 |
| HP:0200134 | Epileptic encephalopathy | 2 |
| HP:0000253 | Progressive microcephaly | 1 |
| HP:0000602 | Ophthalmoplegia | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000729 | Autistic behavior | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0002133 | Status epilepticus | 1 |