| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.1%) |
8766772 |
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA. Ned Tijdschr Geneeskd. 1996;140(28):1463-6. |
| Retrognathia Long philtrum Syndactyly | ||
| Dehydrocholesterols Gas Chromatography Genes, Recessive Homo sapiens Infant, Newborn Male Oxidoreductase Oxidoreductases Acting on CH-CH Group Donors Smith-Lemli-Opitz Syndrome | ||
| 2 (59.0%) |
27306473 |
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. Szpera-Gozdziewicz A, Ropacka-Lesiak M, Rzymski P, Brborowicz GH. Ginekol Pol. 2016;87(1):76-8. |
| Narrow forehead Micrognathia | ||
| Adult Fatal Outcome Females Fetus Homo sapiens Infant Infant, Newborn Male Pregnancy Smith-Lemli-Opitz Syndrome Ultrasonography, Prenatal | ||
| 2 (59.0%) |
12717589 |
Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Rakheja D, Wilson GN, Rogers BB. Pediatr Dev Pathol. 2003;6(3):270-7. |
| Micrognathia Anteverted nares | ||
| Dehydrocholesterols Dwarfism Fatal Outcome Females Homo sapiens Infant, Newborn Liver Smith-Lemli-Opitz Syndrome | ||
| 4 (58.1%) |
10719329 |
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, Gibson KM, Honda M, Honda A, Salen G, Tint GS, Connor WE, Steiner RD. Prenat Diagn. 2000;20(3):238-40. |
| Micrognathia Single transverse palmar crease | ||
| DHCR7 | ||
| Adult Chorionic Villi Sampling Dehydrocholesterols Ergosterol Females Fetal Death Gestational Age Homo sapiens Oxidoreductase Oxidoreductases Acting on CH-CH Group Donors Pregnancy Smith-Lemli-Opitz Syndrome Sterols Ultrasonography, Prenatal | ||
| 5 (57.8%) |
8116676 |
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Johnson JA, Aughton DJ, Comstock CH, von Oeyen PT, Higgins JV, Schulz R. Am J Med Genet. 1994;49(2):240-3. |
| Dandy-Walker malformation Overlapping fingers | ||
| Dandy-Walker Syndrome Disorders of Sex Development Females Fetal Diseases Fetal Growth Retardation Heart Septal Defects Homo sapiens Infant, Newborn Kidney Male Polydactyly Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 6 (57.8%) |
14661577 |
[Anesthetic management of a patient with Smith-Lemli-Opitz syndrome complicated with thrombocytopenia]. Sudou K, Shirotori T, Ichino T, Yamada T, Inokuchi M, Ohata J. Masui. 2003;52(11):1240-2. |
| Micrognathia | ||
| Cryptorchidism General Anesthesia Hernia, Inguinal Homo sapiens Laryngeal Masks Male Repeat Surgery Smith-Lemli-Opitz Syndrome Thrombocytopenia | ||
| 6 (57.8%) |
12812989 |
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. Hum Mol Genet. 2003;12(13):1631-41. |
| Micrognathia | ||
| EBP SC5D | ||
| c|SUB|A|137|C;RS#:104894297 p|SUB|Y|46|S;RS#:104894297 rs104894297 | ||
| Amino Acid Sequence Animals Fibroblasts Genotype Homo sapiens Homozygote Infant, Newborn Lipid Metabolism, Inborn Errors Mice, Transgenic Models, Chemical Models, Genetic Molecular Sequence Data Mus Mutation Oxidoreductases Acting on CH-CH Group Donors Phenotype Sequence Homology, Amino Acid Skin Smith-Lemli-Opitz Syndrome Sterols Time Factors | ||
| 6 (57.8%) |
1392379 |
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. Fukazawa R, Nakahori Y, Kogo T, Kawakami T, Akamatsu H, Tanae A, Hibi I, Nagafuchi S, Nakagome Y, Hirayama T. Acta Paediatr. 1992;81(6-7):570-2. |
| Micrognathia | ||
| SRY | ||
| Face Females Homo sapiens Infant Intellectual Disability Male Microcephaly Nose Ovary Syndrome Y Chromosome | ||
| 9 (53.3%) |
26294165 |
[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report]. Alvarado Socarras JL, Laverde Amaya DC, Prada C, Garcia Carrillo J. Arch Argent Pediatr. 2015;113(5):e290-3. |
| Polydactyly Cleft lip | ||
| Chromosomes, Human, Pair 13 Cleft Palate Congenital Hand Deformities Fetal Macrosomia Holoprosencephaly Homo sapiens Infant, Newborn Male Polydactyly Trisomy | ||
| 10 (48.8%) |
20052364 (2799999) |
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW. J Korean Med Sci. 2010;25(1):159-62. |
| Microcephaly Syndactyly | ||
| DHCR7 | ||
| p|SUB|G|303|R;RS#:142808899 p|SUB|P|227|S rs142808899 | ||
| Amino Acid Substitution Base Sequence Cholestasis Electroencephalography Homo sapiens Infant, Newborn Liver Male Missense Mutation Oxidoreductases Acting on CH-CH Group Donors Phenotype Smith-Lemli-Opitz Syndrome Ultrasonography |
Total: 106
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002020 | Gastroesophageal reflux | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004691 | 2-3 toe syndactyly | Very frequent (99-80%) |
| HP:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0010569 | Elevated 7-dehydrocholesterol | Very frequent (99-80%) |
| HP:0010880 | Increased nuchal translucency | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000057 | obsolete Clitoromegaly | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000965 | Cutis marmorata | Frequent (79-30%) |
| HP:0000992 | Cutaneous photosensitivity | Frequent (79-30%) |
| HP:0000996 | Facial capillary hemangioma | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001262 | Excessive daytime somnolence | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001600 | Abnormality of the larynx | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0001830 | Postaxial foot polydactyly | Frequent (79-30%) |
| HP:0002089 | Pulmonary hypoplasia | Frequent (79-30%) |
| HP:0002101 | Abnormal lung lobation | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002360 | Sleep disturbance | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002719 | Recurrent infections | Frequent (79-30%) |
| HP:0002777 | Tracheal stenosis | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0006695 | Atrioventricular canal defect | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0009623 | Proximal placement of thumb | Frequent (79-30%) |
| HP:0100716 | Self-injurious behavior | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000074 | Ureteropelvic junction obstruction | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000171 | Microglossia | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000499 | Abnormal eyelash morphology | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000647 | Sclerocornea | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001171 | Split hand | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001543 | Gastroschisis | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001884 | Talipes calcaneovalgus | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003027 | Mesomelia | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0005264 | Abnormality of the gallbladder | Occasional (29-5%) |
| HP:0005599 | Hypopigmentation of hair | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0008905 | Rhizomelia | Occasional (29-5%) |
| HP:0009465 | Ulnar deviation of finger | Occasional (29-5%) |
| HP:0009804 | Reduced number of teeth | Occasional (29-5%) |
| HP:0010297 | Bifid tongue | Occasional (29-5%) |
| HP:0011069 | Increased number of teeth | Occasional (29-5%) |
| HP:0100542 | Abnormal localization of kidney | Occasional (29-5%) |
Total: 50
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 4 |
| HP:0000518 | Cataract | 4 |
| HP:0001508 | Failure to thrive | 4 |
| HP:0000047 | Hypospadias | 3 |
| HP:0000062 | Ambiguous genitalia | 2 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0000846 | Adrenal insufficiency | 2 |
| HP:0010442 | Polydactyly | 2 |
| HP:0100259 | Postaxial polydactyly | 2 |
| HP:0000037 | Male pseudohermaphroditism | 1 |
| HP:0000039 | Epispadias | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000647 | Sclerocornea | 1 |
| HP:0001019 | Erythroderma | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001302 | Pachygyria | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002033 | Poor suck | 1 |
| HP:0002205 | Recurrent respiratory infections | 1 |
| HP:0002571 | Achalasia | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002904 | Hyperbilirubinemia | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0004691 | 2-3 toe syndactyly | 1 |
| HP:0007537 | Severe photosensitivity | 1 |
| HP:0008073 | Low maternal serum estriol | 1 |
| HP:0009914 | Cyclopia | 1 |
| HP:0011024 | Abnormality of the gastrointestinal tract | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031035 | Chronic infection | 1 |
| HP:0100312 | Cerebral germinoma | 1 |
| HP:0100662 | Chondritis | 1 |
| HP:0410030 | Cleft lip | 1 |