| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. J Inherit Metab Dis. 2017;40(5):745-747. |
| Macrocephaly | ||
| ARHGEF2 ATP6V0A2 BRAF COG7 ECHS1 GORAB HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 PYCR1 RAB6A RAF1 RIN2 SHOC2 SOS2 TALDO1 XYLT2 ZHX2 | ||
| rs1554886473 rs777218310 | ||
| Cutis Laxa Enoyl-CoA Hydratase Females Homo sapiens Infant Leigh Disease Proto-Oncogene Mas | ||
| 1 (39.0%) |
27277385 |
RIN2 syndrome: Expanding the clinical phenotype. Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F. Am J Med Genet A. 2016;170(9):2408-15. |
| Macrocephaly | ||
| RIN2 | ||
| p|FS|I|627|H|7;RS#:759390822 | ||
| Adult Alleles Biopsy Carrier Proteins Exons Facies Females Genetic Association Studies Genotype Guanine Nucleotide Exchange Factors Homo sapiens Male Middle Aged Mutation Phenotype Syndrome Young Adult | ||
| 1 (39.0%) |
20424861 |
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, Willaert A, Benmansour A, De Paepe A, Verloes A. Hum Genet. 2010;128(1):79-88. |
| Macrocephaly | ||
| RAB5A RIN2 | ||
| c|DEL|1914_1915|GC;RS#:587776915 rs587776915 | ||
| Adult Base Sequence Carrier Proteins Child Connective Tissue Diseases Females Genes, Recessive Guanine Nucleotide Exchange Factors Homo sapiens Homozygote Male Molecular Sequence Data Skin Aging Syndrome |
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000159 | Abnormal lip morphology | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000974 | Hyperextensible skin | Very frequent (99-80%) |
| HP:0001007 | Hirsutism | Very frequent (99-80%) |
| HP:0001382 | Joint hypermobility | Very frequent (99-80%) |
| HP:0001582 | Redundant skin | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0002209 | Sparse scalp hair | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0011232 | Infra-orbital fold | Very frequent (99-80%) |
| HP:0012724 | Upper eyelid edema | Very frequent (99-80%) |
| HP:0040079 | Irregular dentition | Very frequent (99-80%) |
| HP:0000766 | Abnormality of the sternum | Frequent (79-30%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001620 | High pitched voice | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000815 | Hypergonadotropic hypogonadism | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001724 | obsolete Aortic dilatation | Occasional (29-5%) |
| HP:0002659 | Increased susceptibility to fractures | Occasional (29-5%) |
| HP:0008209 | Premature ovarian insufficiency | Occasional (29-5%) |
| HP:0011003 | High myopia | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002948 | Vertebral fusion | 1 |