| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
30737907 |
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. Poreau B, Ramond F, Harbuz R, Satre V, Barro C, Vettier C, Adouard V, Thevenon J, Jouk PS, Coutton C, Touraine R, Dieterich K. Am J Med Genet A. 2019;179(4):650-654. |
| Intellectual disability | ||
| AMMECR1 SNORD96B | ||
| Child Chromosome Deletion Chromosomes, Human, X Craniofacial Abnormalities Elliptocytosis, Hereditary Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Male Membrane Proteins Proteins | ||
| 1 (4.0%) |
23520119 |
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. Gazou A, Riess A, Grasshoff U, Schaferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Am J Med Genet A. 2013;161A(4):860-4. |
| Intellectual disability | ||
| ACSL4 AMMECR1 COL4A5 GUCY2F KCNE5 MIR3978 NXT2 RTL9 SNORD96B TMEM164 | ||
| Child Chromosome Deletion Chromosomes, Human, X Coenzyme A Ligases Facies Fluorescent in Situ Hybridization Gene Deletion Genome-Wide Association Study Genotype Homo sapiens Intellectual Disability Male Phenotype Single Nucleotide Polymorphism |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000093 | Proteinuria | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0002907 | Microscopic hematuria | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0100820 | Glomerulopathy | Very frequent (99-80%) |
| HP:0000083 | Renal insufficiency | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0004445 | Elliptocytosis | Frequent (79-30%) |
| HP:0012471 | Thick vermilion border | Frequent (79-30%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000944 | Abnormality of the metaphysis | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0011069 | Increased number of teeth | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 2 |
| HP:0004445 | Elliptocytosis | 2 |
Total: 4
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| AMMECR1 | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | 9949 |
| ACSL4 | acyl-CoA synthetase long chain family member 4 | 2182 |
| AMMECR1 | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | 9949 |
| KCNE5 | potassium voltage-gated channel subfamily E regulatory subunit 5 | 23630 |