| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.7%) |
24715367 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Am J Med Genet A. 2014;164A(7):1821-5. |
| Blepharophimosis Short humerus | ||
| KAT6B KIF1BP MED12 | ||
| c|SUB|G|3443|A;RS#:387907360 p|SUB|R|1148|H;RS#:387907360 rs387907360 | ||
| Blepharophimosis Developmental Disabilities Genetic Association Studies Hirschsprung Disease Homo sapiens Infant, Newborn Male Mediator Complex Mutation Phenotype Sibling Syndrome | ||
| 2 (58.9%) |
16700052 |
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Am J Med Genet A. 2006;140(12):1285-96. |
| Microcephaly Triangular face Blepharophimosis Adducted thumb | ||
| rs1292888378 rs1369442321 rs1556334519 rs1556334793 rs1556336534 rs1556337063 rs1556338747 rs1556340124 rs387907360 rs748064846 rs769232520 rs863223696 | ||
| Blepharophimosis Child Child, Preschool Chromosomes, Human, X Fatal Outcome Females Follow-Up Studies Genes, Recessive Genetic Diseases, X-Linked Homo sapiens Hypothyroidism Infant Intellectual Disability Male Syndrome Time Factors | ||
| 3 (44.7%) |
7519949 |
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. Melnyk AR. Clin Dysmorphol. 1994;3(2):121-4. |
| Microcephaly Blepharophimosis | ||
| Blepharophimosis Blepharoptosis Developmental Disabilities Females Homo sapiens Infant Intellectual Disability Microcephaly Syndrome | ||
| 4 (39.0%) |
26338144 |
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA. Am J Med Genet A. 2015;167A(12):3180-5. |
| Microcephaly | ||
| MED12 | ||
| c|SUB|G|4147|A;RS#:863223696 p|SUB|A|1383|T;RS#:863223696 | ||
| Adult Blepharophimosis Blepharoptosis Child Congenital Heart Defects Craniofacial Abnormalities Genes, X-Linked Homo sapiens Infant Intellectual Disability Male Mediator Complex Missense Mutation Muscle Hypertonia Muscular Atrophy Phenotype | ||
| 5 (35.4%) |
10422013 |
Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation. Megarbane A, Farah CB, Nabbout R. Genet Couns. 1999;10(2):183-8. |
| Ptosis 2-3 toe syndactyly Finger clinodactyly | ||
| Blepharoptosis Child, Preschool Congenital Hand Deformities Differential Diagnosis Females Homo sapiens Intellectual Disability Male Psychomotor Disorders Syndactyly Syndrome | ||
| 6 (31.0%) |
30739122 |
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. Galletti B, Gazia F, Freni F, Nicita RA, Bruno R, Galletti F. Am J Case Rep. 2019;20:175-178. |
| Chronic otitis media Postaxial polydactyly | ||
| Blepharophimosis Child Congenital Heart Defects Congenital Hypothyroidism Facies Homo sapiens Intellectual Disability Joint Instability Magnetic Resonance Imaging Male Middle Ear Cholesteatoma Otitis Media Rare Diseases | ||
| 7 (30.8%) |
12868473 |
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. Clin Dysmorphol. 2003;12(2):109-13. |
| Hearing impairment Blepharophimosis | ||
| Blepharophimosis Blepharoptosis Child, Preschool Homo sapiens Infant Infant, Newborn Intellectual Disability Male | ||
| 7 (30.8%) |
10955481 |
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. Marques-de-faria AP, Maciel-Guerra AT, Junior GG, Baptista MT. Clin Dysmorphol. 2000;9(3):199-204. |
| Blepharophimosis | ||
| Blepharophimosis Differential Diagnosis Homo sapiens Hypothyroidism Infant Intellectual Disability Male Syndrome | ||
| 7 (30.8%) |
10706355 |
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. Zampino G, Balducci F, Mariotti P, Dickmann A, Mastroiacovo P. Am J Med Genet. 2000;90(5):358-60. |
| Epicanthus | ||
| Anus, Imperforate Blepharoptosis Congenital Heart Defects Females Growth Disorders Homo sapiens Infant Intellectual Disability Syndrome | ||
| 7 (30.8%) |
10631927 |
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? Stoll C. Genet Couns. 1999;10(4):383-7. |
| Ptosis Blepharophimosis | ||
| Blepharophimosis Child, Preschool Females Homo sapiens Intellectual Disability Syndrome |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000046 | Scrotal hypoplasia | Very frequent (99-80%) |
| HP:0000093 | Proteinuria | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000356 | Abnormality of the outer ear | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000403 | Recurrent otitis media | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0000646 | Amblyopia | Very frequent (99-80%) |
| HP:0000685 | Hypoplasia of teeth | Very frequent (99-80%) |
| HP:0000687 | Widely spaced teeth | Very frequent (99-80%) |
| HP:0000691 | Microdontia | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001018 | Abnormal palmar dermatoglyphics | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001270 | Motor delay | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0030148 | Heart murmur | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0012619 | Multiple bladder diverticula | Frequent (79-30%) |
| HP:0012768 | Neonatal asphyxia | Frequent (79-30%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000581 | Blepharophimosis | 7 |
| HP:0000508 | Ptosis | 4 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0000364 | Hearing abnormality | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000389 | Chronic otitis media | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0009797 | Cholesteatoma | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|