| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
1533447 |
Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome. Lapeer GL, Fransman SL. Oral Surg Oral Med Oral Pathol. 1992;73(4):456-60. |
| Micrognathia Hypodontia | ||
| Cardiomegaly Child Fingers Growth Disorders Homo sapiens Intellectual Disability Male Malocclusion Mandible Micrognathism Spinal Diseases Syndrome Toes Tooth Abnormalities | ||
| 2 (57.8%) |
24658994 |
Yunis-Varon syndrome: the first report of two Iranian cases. Hadipour Z, Shafeghati Y, Hadipour F. Acta Med Iran. 2014;52(1):85-7. |
| Micrognathia | ||
| Cleidocranial Dysplasia Ectodermal Dysplasia Females Homo sapiens Infant, Newborn Iran Limb Deformities, Congenital Male Micrognathism | ||
| 2 (57.8%) |
11446410 |
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Faivre L, Cormier-Daire V, Genevieve D, Pinto G, Goulet O, Munnich A, Maroteaux P, Le Merrer M. Clin Dysmorphol. 2001;10(3):181-4. |
| Micrognathia | ||
| Bone and Bones Dwarfism Females Fingers Homo sapiens Intelligence Jaw Abnormalities | ||
| 4 (40.9%) |
2918527 |
Further delineation of the Yunis-Varon syndrome. Hennekam RC, Vermeulen-Meiners C. J Med Genet. 1989;26(1):55-8. |
| Hypoplastic facial bones | ||
| Chromosome Aberrations Fingers Genes, Recessive Genetic Carrier Screening Homo sapiens Infant, Newborn Male Syndrome | ||
| 5 (39.0%) |
16816498 |
Yunis Varon syndrome. Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, Mohammed Z, Kulkarni PM. Indian J Pediatr. 2006;73(4):353-5. |
| Microcephaly | ||
| Congenital Foot Deformity Craniofacial Abnormalities Females Fingers Homo sapiens Infant, Newborn Syndrome | ||
| 5 (39.0%) |
11078567 |
Yunis-Varon syndrome: evidence for a lysosomal storage disease. Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, Wiestler OD, Bartmann P. Am J Med Genet. 2000;95(2):157-60. |
| Microcephaly | ||
| Autopsy Bone and Bones Brain Carbohydrates Congenital Hand Deformities Dandy-Walker Syndrome Electron Microscopy Fatal Outcome Females Homo sapiens Hydrocephalus Infant Lysosomal Storage Diseases Microcephaly Neuraminic Acids Neurons Oligosaccharides Syndrome Thin Layer Chromatography | ||
| 5 (39.0%) |
10463294 |
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. Oyer CE, Tatevosyants NG, Cortez SC, Hornstein A, Wallach M. Pediatr Dev Pathol. 1998;1(4):314-8. |
| Abnormal clavicle morphology Wormian bones | ||
| Adult Cerebral Hemorrhage Cleidocranial Dysplasia Fatal Outcome Females Hemosiderin Homo sapiens Hydrocephalus Infant, Newborn Seizures | ||
| 8 (38.4%) |
22044576 |
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varon syndrome or report of a new entity. Reutter H, Bagci S, Muller A, Gembruch U, Geipel A, Berg C, Eggermann T, Spengler S, Bartmann P, Rudnik-Schoneborn S. Eur J Med Genet. 2012;55(1):27-31. |
| Hypotonia Sparse scalp hair Sparse eyebrow | ||
| Cleidocranial Dysplasia Congenital Heart Defects Echoencephalography Ectodermal Dysplasia Females Gestational Age Homo sapiens Infant, Newborn Limb Deformities, Congenital Micrognathism Pulmonary Hypertension Toes | ||
| 9 (31.0%) |
18203163 |
Yunis-Varon syndrome: further delineation of the phenotype. Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. Am J Med Genet A. 2008;146A(4):532-7. |
| Hypertension Abnormality of toe | ||
| Central Nervous System Cognition Craniofacial Abnormalities Ectodermal Dysplasia Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Polyhydramnios Pregnancy Syndrome | ||
| 10 (17.5%) |
7496176 |
Generalized lysosomal storage in Yunis Varon syndrome. Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, Tagliavini F, Bertagnolio B. Neuromuscul Disord. 1995;5(5):423-8. |
| Myopathy | ||
| rs397514707 | ||
| Cerebellum Cultured Cells Fatal Outcome Females Fibroblasts Glucan 1,4-alpha-Glucosidase Homo sapiens Hydrolase Infant, Newborn Lysosomal Storage Diseases Oligosaccharides Syndrome |
Total: 90
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0009881 | Aplasia of the distal phalanges of the hand | Very frequent (99-80%) |
| HP:0010102 | Aplasia of the distal phalanx of the hallux | Very frequent (99-80%) |
| HP:0010107 | Short proximal phalanx of hallux | Very frequent (99-80%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000054 | Micropenis | Frequent (79-30%) |
| HP:0000188 | Short upper lip | Frequent (79-30%) |
| HP:0000216 | Broad secondary alveolar ridge | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000331 | Short chin | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000647 | Sclerocornea | Frequent (79-30%) |
| HP:0000653 | Sparse eyelashes | Frequent (79-30%) |
| HP:0000954 | Single transverse palmar crease | Frequent (79-30%) |
| HP:0001159 | Syndactyly | Frequent (79-30%) |
| HP:0001167 | Abnormality of finger | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001302 | Pachygyria | Frequent (79-30%) |
| HP:0001525 | Severe failure to thrive | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0001638 | Cardiomyopathy | Frequent (79-30%) |
| HP:0001640 | Cardiomegaly | Frequent (79-30%) |
| HP:0001831 | Short toe | Frequent (79-30%) |
| HP:0001838 | Rocker bottom foot | Frequent (79-30%) |
| HP:0001840 | Metatarsus adductus | Frequent (79-30%) |
| HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%) |
| HP:0002139 | Arrhinencephaly | Frequent (79-30%) |
| HP:0002209 | Sparse scalp hair | Frequent (79-30%) |
| HP:0002529 | Neuronal loss in central nervous system | Frequent (79-30%) |
| HP:0002696 | Abnormal parietal bone morphology | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004331 | Decreased skull ossification | Frequent (79-30%) |
| HP:0005793 | Shortening of all distal phalanges of the toes | Frequent (79-30%) |
| HP:0005819 | Short middle phalanx of finger | Frequent (79-30%) |
| HP:0005989 | Redundant neck skin | Frequent (79-30%) |
| HP:0006323 | Premature loss of primary teeth | Frequent (79-30%) |
| HP:0006628 | Absent sternal ossification | Frequent (79-30%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Frequent (79-30%) |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | Frequent (79-30%) |
| HP:0007333 | Hypoplasia of the frontal lobes | Frequent (79-30%) |
| HP:0007633 | Bilateral microphthalmos | Frequent (79-30%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0008935 | Generalized neonatal hypotonia | Frequent (79-30%) |
| HP:0009381 | Short finger | Frequent (79-30%) |
| HP:0009777 | Absent thumb | Frequent (79-30%) |
| HP:0010035 | Aplasia of the 1st metacarpal | Frequent (79-30%) |
| HP:0010067 | Aplasia/hypoplasia of the 1st metatarsal | Frequent (79-30%) |
| HP:0010537 | Wide cranial sutures | Frequent (79-30%) |
| HP:0011061 | Abnormality of dental structure | Frequent (79-30%) |
| HP:0011451 | Congenital microcephaly | Frequent (79-30%) |
| HP:0012294 | Abnormality of the occipital bone | Frequent (79-30%) |
| HP:0040111 | Bilateral external ear deformity | Frequent (79-30%) |
| HP:0040163 | Abnormal pelvis bone morphology | Frequent (79-30%) |
| HP:0045075 | Sparse eyebrow | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000059 | Hypoplastic labia majora | Occasional (29-5%) |
| HP:0000162 | Glossoptosis | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000773 | Short ribs | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001920 | Renal artery stenosis | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0003015 | Flared metaphysis | Occasional (29-5%) |
| HP:0004993 | Slender long bones with narrow diaphyses | Occasional (29-5%) |
| HP:0006713 | Aplasia/Hypoplasia of the scapulae | Occasional (29-5%) |
| HP:0008665 | Clitoral hypertrophy | Occasional (29-5%) |
| HP:0010880 | Increased nuchal translucency | Occasional (29-5%) |
| HP:0012809 | Narrow nasal base | Occasional (29-5%) |
| HP:0030816 | Gingival recession | Occasional (29-5%) |
| HP:0100817 | Renovascular hypertension | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Very rare (4-1%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0005461 | Craniofacial disproportion | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0010537 | Wide cranial sutures | 1 |
| HP:0012165 | Oligodactyly | 1 |