| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (29.2%) |
21977988 |
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. Gray PE, Sillence D, Kakakios A. Int J Immunogenet. 2011;38(6):501-5. |
| Immunodeficiency Acetabular spurs | ||
| rs188343279 | ||
| Bone and Bones Cardiomyopathies Child, Preschool Cilia Females Genetic Diseases, X-Linked Homo sapiens Humoral Immunity Immunologic Deficiency Syndromes Infant, Newborn Male Mental Retardation, X-Linked Osteochondrodysplasias Pelvis Retinal Diseases | ||
| 2 (21.2%) |
16901296 |
The cognitive and behavioural phenotype of Roifman syndrome. de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D. J Intellect Disabil Res. 2006;50(Pt 9):690-6. |
| Intellectual disability Spondyloepiphyseal dysplasia | ||
| Child Child Behavior Cognition Facies Growth Disorders Homo sapiens Immunologic Deficiency Syndromes Intelligence Tests Male Mental Retardation, X-Linked Neuropsychological Tests Osteochondrodysplasias Phenotype Retinal Diseases Syndrome | ||
| 2 (21.2%) |
11293748 |
Noncompaction of the myocardium associated with Roifman syndrome. Mandel K, Grunebaum E, Benson L. Cardiol Young. 2001;11(2):240-3. |
| Spondyloepiphyseal dysplasia | ||
| Bone Diseases, Developmental Cardiomyopathies Homo sapiens Immunologic Deficiency Syndromes Male Syndrome X Chromosome | ||
| 4 (4.0%) |
29263834 (5677950) |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. NPJ Genom Med. 2017;2:23. |
| Immunodeficiency | ||
| RNU4ATAC | ||
| 4 (4.0%) |
21910238 |
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. Fairchild HR, Fairchild G, Tierney KM, McCartney DL, Cross JJ, de Vries PJ. Am J Med Genet A. 2011;155A(10):2560-5. |
| Intellectual disability | ||
| Brain Cardiomyopathies Child Emotions Facial Expression Homo sapiens Immunologic Deficiency Syndromes Magnetic Resonance Imaging Mental Retardation, X-Linked Neuropsychological Tests Osteochondrodysplasias Retinal Diseases | ||
| 4 (4.0%) |
10905663 |
Hypogonadotrophic hypogonadism in Roifman syndrome. Robertson SP, Rodda C, Bankier A. Clin Genet. 2000;57(6):435-8. |
| Hypogonadotropic hypogonadism | ||
| Adult Facies Growth Disorders Homo sapiens Hypogonadism Intellectual Disability Male Osteochondrodysplasias Pelvis Retinal Diseases Syndrome X Chromosome |
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000044 | Hypogonadotrophic hypogonadism | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000403 | Recurrent otitis media | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000446 | Narrow nasal bridge | Frequent (79-30%) |
| HP:0000556 | Retinal dystrophy | Frequent (79-30%) |
| HP:0000637 | Long palpebral fissure | Frequent (79-30%) |
| HP:0000964 | Eczema | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001433 | Hepatosplenomegaly | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001795 | Hyperconvex nail | Frequent (79-30%) |
| HP:0001831 | Short toe | Frequent (79-30%) |
| HP:0001880 | Eosinophilia | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0002655 | Spondyloepiphyseal dysplasia | Frequent (79-30%) |
| HP:0002656 | Epiphyseal dysplasia | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0002716 | Lymphadenopathy | Frequent (79-30%) |
| HP:0003273 | Hip contracture | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004313 | Decreased antibody level in blood | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004625 | Biconvex vertebral bodies | Frequent (79-30%) |
| HP:0005041 | Irregular capital femoral epiphysis | Frequent (79-30%) |
| HP:0006532 | Recurrent pneumonia | Frequent (79-30%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0008804 | Broad femoral head | Frequent (79-30%) |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0011231 | Prominent eyelashes | Frequent (79-30%) |
| HP:0410170 | Hippocampal atrophy | Frequent (79-30%) |
| HP:0012817 | Noncompaction cardiomyopathy | Very rare (4-1%) |
| HP:0005419 | Decreased T cell activation | Excluded (0%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002721 | Immunodeficiency | 3 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 2 |
| HP:0000044 | Hypogonadotrophic hypogonadism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0005363 | Humoral immunodeficiency | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0410170 | Hippocampal atrophy | 1 |