| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
28553390 (5437799) |
A Neonate with X-linked Lissencephaly with Ambiguous Genitalia. Minocha P, Choudhary A, Shambhavi , Sitaraman S. J Pediatr Neurosci. 2017;12(1):80-82. |
| Microcephaly | ||
| 1 (39.0%) |
23329764 |
Primary hypogonadism in a case with XLAG syndrome. Ozdemir OM, Caglar M, Kocyigit A, Dundar NO, Sangun O, Dundar B. J Pediatr Endocrinol Metab. 2012;25(11-12):1161-3. |
| Microcephaly | ||
| Chromosomes, Human, X Corpus Callosum Electroencephalography Epilepsy Eunuchism Genetic Diseases, X-Linked Homo sapiens Infant Lissencephaly Magnetic Resonance Imaging Male Male Genital Organs Syndrome | ||
| 1 (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 | ||
| 1 (39.0%) |
17221017 |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome. Spinosa MJ, Liberalesso PB, Vieira SC, Olmos AS, Lohr A Jr. Arq Neuropsiquiatr. 2006;64(4):1023-6. |
| Microcephaly | ||
| ARX | ||
| Electroencephalography Epilepsy Genetic Diseases, X-Linked Homeodomain Proteins Homo sapiens Infant, Newborn Lissencephaly Magnetic Resonance Imaging Male Male Genital Organs Syndrome | ||
| 1 (39.0%) |
15248105 |
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. Hahn A, Gross C, Uyanik G, Hehr U, Hugens-Penzel M, Alzen G, Neubauer BA. Neuropediatrics. 2004;35(3):202-5. |
| Postnatal microcephaly | ||
| ARX | ||
| c|DEL|790|C | ||
| Genes, Homeobox Genetic Diseases, X-Linked Homeodomain Proteins Homo sapiens Infant, Newborn Kidney Male Phenotype Phosphates Urogenital Abnormalities Wasting Syndrome | ||
| 6 (17.5%) |
17641262 |
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. Troester MM, Trachtenberg T, Narayanan V. J Child Neurol. 2007;22(6):744-8. |
| Intellectual disability Spasticity | ||
| rs398124510 rs797045300 | ||
| Child, Preschool Chromosomes, Human, X DNA Mutational Analysis Exons Gene Deletion Homeodomain Proteins Homo sapiens Male Mental Retardation, X-Linked | ||
| 7 (4.0%) |
30010278 |
Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome. Motoi H, Shimizu H, Fujiwara Y, Watanabe Y, Kato M, Takeshita S. No To Hattatsu. 2016;48(5):347-50. |
| Diarrhea | ||
| Classical Lissencephalies and Subcortical Band Het... Homo sapiens Infant Male | ||
| 7 (4.0%) |
26306640 |
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. Moey C, Topper S, Karn M, Johnson AK, Das S, Vidaurre J, Shoubridge C. Eur J Hum Genet. 2016;24(5):681-9. |
| Intellectual disability | ||
| ARX | ||
| c|SUB|C|81|G;RS#:398122854 c|SUB|G|34|T;RS#:587783200 rs587783200 | ||
| Codon, Initiator Genetic Diseases, X-Linked HEK293 Cells Homeodomain Proteins Homo sapiens Infant Male Mutation Peptide Chain Initiation, Translational RNA, Messenger Sibling West Syndrome | ||
| 7 (4.0%) |
22585566 |
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM. Am J Med Genet A. 2012;158A(6):1472-6. |
| Intellectual disability | ||
| ARX | ||
| c|INS|335|6 | ||
| Facies Heterozygote Homeodomain Proteins Homo sapiens Infant Male Malformations of Cortical Development Mutagenesis, Insertional Mutation Neuroimaging Periventricular Nodular Heterotopia | ||
| 7 (4.0%) |
21426321 |
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females. Eksioglu YZ, Pong AW, Takeoka M. Epilepsia. 2011;52(5):984-92. |
| Ambiguous genitalia | ||
| ARX | ||
| Adult Child Developmental Disabilities Disorders of Sex Development Doublecortin Protein Epilepsy Females Genes, Homeobox Heterozygote Homeodomain Proteins Homo sapiens Infant Male Mutation Phenotype Sex Distribution Syndrome West Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0001302 | Pachygyria | Very frequent (99-80%) |
| HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001522 | Death in infancy | Frequent (79-30%) |
| HP:0002024 | Malabsorption | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001738 | Exocrine pancreatic insufficiency | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0011220 | Prominent forehead | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 3 |
| HP:0000062 | Ambiguous genitalia | 2 |
| HP:0000117 | Renal phosphate wasting | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001336 | Myoclonus | 1 |