| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
23074674 (3447229) |
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. Darcy DC, Rosenthal S, Wallerstein RJ. Case Rep Genet. 2011;2011:306072. |
| Micrognathia Telecanthus | ||
| 1 (63.5%) |
21567902 |
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. Dentici ML, Mingarelli R, Dallapiccola B. Am J Med Genet A. 2011;155A(3):459-65. |
| Micrognathia Telecanthus | ||
| GH1 | ||
| rs398123021 | ||
| Blepharophimosis Child Child, Preschool Facies Females Homo sapiens Infant Infant, Newborn Intellectual Disability Male Pregnancy Sibling Syndrome | ||
| 1 (63.5%) |
20532061 (2881528) |
Anesthesia of a patient with Dubowitz syndrome -A case report-. Lee MK, Lee YS. Korean J Anesthesiol. 2010;58(5):495-9. |
| Micrognathia Blepharophimosis | ||
| 1 (63.5%) |
7968200 |
[The Dubowitz syndrome]. Dumic M, Cvitkovic M, Letinic D, Filipovic-Grcic B, Kordic R. Lijec Vjesn. 1994;116(5-6):135-7. |
| Epicanthus Micrognathia | ||
| Child, Preschool Females Growth Disorders Homo sapiens Intellectual Disability Syndrome | ||
| 1 (63.5%) |
3877102 |
The Dubowitz syndrome: a retrospective. Moller KT, Gorlin RJ. J Craniofac Genet Dev Biol Suppl. 1985;1:283-6. |
| Broad forehead Micrognathia Telecanthus | ||
| Body Height Child, Preschool Dentition Face Females Fetal Growth Retardation Growth Disorders Homo sapiens Infant Intellectual Disability Male Pregnancy Speech Disorders Syndrome | ||
| 6 (54.5%) |
28003643 (5370204) |
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. J Hum Genet. 2017;62(4):465-471. |
| Brachycephaly Blepharophimosis Hallux varus | ||
| c|DEL|3139_3141| p|DEL|1047_1047| rs1304422857 | ||
| Adult Carrier Proteins Child Child, Preschool Congenital Hand Deformities Differential Diagnosis Eczema Eye Abnormalities Face Facies Females GTPase-Activating Proteins Growth Disorders Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Membrane Proteins Microcephaly Micrognathism Mutation Neck Nerve Tissue Proteins Sequence Analysis, DNA | ||
| 6 (54.5%) |
3709570 |
The Dubowitz syndrome. Kuster W, Majewski F. Eur J Pediatr. 1986;144(6):574-8. |
| Microcephaly Telecanthus Clinodactyly | ||
| Child, Preschool Congenital Heart Defects Face Females Fingers Homo sapiens Hyperkinesia Infant Intellectual Disability Male Microcephaly Pregnancy Syndrome | ||
| 8 (53.2%) |
1491873 |
Dubowitz' syndrome with special characteristics. Gomirato G, Bona F, Basano R. Panminerva Med. 1992;34(3):141-4. |
| Microcephaly Adducted thumb | ||
| Homo sapiens Infant Metacarpus Psychomotor Disorders Syndrome | ||
| 9 (52.0%) |
9297441 |
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? Vogels A, Lorenzetti ME, Gillis P, Fryns JP. Ann Genet. 1996;39(1):31-4. |
| Facial asymmetry Adducted thumb | ||
| Females Fetal Growth Retardation Homo sapiens Infant, Newborn Syndrome Tetralogy of Fallot | ||
| 10 (48.8%) |
8553122 |
Progressive scoliosis in Dubowitz syndrome. Soyer AD, McConnell JR. Spine (Phila Pa 1976). 1995;20(21):2335-7. |
| Microcephaly Syndactyly | ||
| Eczema Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Male Microcephaly Syndrome |
Total: 81
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Very frequent (99-80%) |
| HP:0009602 | Abnormality of thumb phalanx | Very frequent (99-80%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Very frequent (99-80%) |
| HP:0011304 | Broad thumb | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000055 | Abnormality of female external genitalia | Frequent (79-30%) |
| HP:0000176 | Submucous cleft hard palate | Frequent (79-30%) |
| HP:0000260 | Wide anterior fontanel | Frequent (79-30%) |
| HP:0000270 | Delayed cranial suture closure | Frequent (79-30%) |
| HP:0000275 | Narrow face | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Frequent (79-30%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000964 | Eczema | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0001852 | Sandal gap | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002209 | Sparse scalp hair | Frequent (79-30%) |
| HP:0002213 | Fine hair | Frequent (79-30%) |
| HP:0002719 | Recurrent infections | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0005338 | Sparse lateral eyebrow | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0009738 | Abnormality of the antihelix | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000829 | Hypoparathyroidism | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0000965 | Cutis marmorata | Occasional (29-5%) |
| HP:0000992 | Cutaneous photosensitivity | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0001840 | Metatarsus adductus | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0001874 | Abnormality of neutrophils | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002024 | Malabsorption | Occasional (29-5%) |
| HP:0002025 | Anal stenosis | Occasional (29-5%) |
| HP:0002028 | Chronic diarrhea | Occasional (29-5%) |
| HP:0002035 | Rectal prolapse | Occasional (29-5%) |
| HP:0002099 | Asthma | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006721 | Acute lymphoblastic leukemia | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
Total: 38
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 17 |
| HP:0000964 | Eczema | 6 |
| HP:0000581 | Blepharophimosis | 4 |
| HP:0001511 | Intrauterine growth retardation | 4 |
| HP:0004322 | Short stature | 4 |
| HP:0008897 | Postnatal growth retardation | 4 |
| HP:0008070 | Sparse hair | 3 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0000347 | Micrognathia | 2 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000506 | Telecanthus | 2 |
| HP:0000508 | Ptosis | 2 |
| HP:0000752 | Hyperactivity | 2 |
| HP:0001047 | Atopic dermatitis | 2 |
| HP:0001181 | Adducted thumb | 2 |
| HP:0001609 | Hoarse voice | 2 |
| HP:0000220 | Velopharyngeal insufficiency | 1 |
| HP:0000246 | Sinusitis | 1 |
| HP:0000340 | Sloping forehead | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0001770 | Toe syndactyly | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0001913 | Granulocytopenia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002750 | Delayed skeletal maturation | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0012393 | Allergy | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100582 | Nasal polyposis | 1 |