| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.1%) |
22987394 |
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ. Am J Med Genet A. 2012;158A(11):2935-40. |
| Microretrognathia Blepharophimosis Dental malocclusion Arachnodactyly | ||
| CHST14 | ||
| Arachnodactyly Base Sequence Blepharophimosis Brain Connective Tissue Diseases Contracture Differential Diagnosis Ehlers-Danlos Syndrome Facies Females Genotype Homo sapiens Molecular Sequence Data Mutation Phenotype X-Ray Computed Tomography | ||
| 2 (64.6%) |
24649842 |
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. dos Santos AN, da Costa CS, de Campos AC, Rocha NA. Dev Neurorehabil. 2014;17(4):278-83. |
| Micrognathia Blepharophimosis Arachnodactyly | ||
| rs1555638052 rs1555638058 rs1555639568 rs587777450 rs745895175 rs998757704 | ||
| Anthropometry Arachnodactyly Blepharophimosis Cognition Connective Tissue Diseases Contracture Early Intervention (Education) Homo sapiens Infant Male Motor Skills | ||
| 2 (64.6%) |
23162309 (3491307) |
Unusual manifestation of Marden-Walker syndrome. Taksande AM, Vilhekar KY. Indian J Hum Genet. 2012;18(2):256-8. |
| Micrognathia Blepharophimosis Arachnodactyly | ||
| 2 (64.6%) |
7506965 |
Marden-Walker syndrome: a case report and a critical review of the literature. Williams MS, Josephson KD, Wargowski DS. Clin Dysmorphol. 1993;2(3):211-9. |
| Micrognathia Blepharophimosis Arachnodactyly | ||
| Blepharophimosis Cleft Palate Contracture Developmental Disabilities Face Homo sapiens Hypospadias Infant, Newborn Male Mandible Syndrome | ||
| 2 (64.6%) |
3591834 |
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Gossage D, Perrin JM, Butler MG. Am J Med Genet. 1987;26(4):915-9. |
| Micrognathia Blepharophimosis Arachnodactyly | ||
| Child, Preschool Homo sapiens Pyloric Stenosis Syndrome | ||
| 6 (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 | ||
| 6 (63.5%) |
10893662 |
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP. Genet Couns. 2000;11(2):111-8. |
| Micrognathia Blepharophimosis | ||
| Arthrogryposis Blepharophimosis Craniofacial Abnormalities Females Genetic Counseling Homo sapiens Hypokinesia Infant, Newborn Intellectual Disability Male Pregnancy Syndrome | ||
| 6 (63.5%) |
8370150 |
Marden-Walker syndrome: case report, literature review and nosologic discussion. Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuran S, Hamel B, Jaeken D, Fryns JP. Clin Genet. 1993;43(6):303-8. |
| Micrognathia Blepharophimosis | ||
| Dandy-Walker Syndrome Growth Disorders Homo sapiens Infant, Newborn Male Psychomotor Performance Syndrome | ||
| 6 (63.5%) |
7679543 |
Marden-Walker phenotype: spectrum of variability in three infants. Ramer JC, Frankel CA, Ladda RL. Am J Med Genet. 1993;45(3):285-91. |
| Micrognathia Blepharophimosis | ||
| Blepharophimosis Child, Preschool Contracture Developmental Disabilities Face Homo sapiens Infant Male Micrognathism Phenotype Syndrome | ||
| 6 (63.5%) |
7081292 |
Brief clinical report and review: the Marden-Walker syndrome. Jaatoul NY, Haddad NE, Khoury LA, Afifi AK, Bahuth NB, Deeb ME, Mikati MA, Der Kaloustian VM. Am J Med Genet. 1982;11(3):259-71. |
| Micrognathia Blepharophimosis | ||
| PIK3C2A | ||
| External Ear Face Fingers Genes, Recessive Homo sapiens Infant Intellectual Disability Joints Male Syndrome |
Total: 61
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000176 | Submucous cleft hard palate | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000298 | Mask-like facies | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | 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:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0002974 | Radioulnar synostosis | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0003560 | Muscular dystrophy | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012745 | Short palpebral fissure | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000036 | Abnormality of the penis | Occasional (29-5%) |
| HP:0000039 | Epispadias | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000110 | Renal dysplasia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001331 | Absent septum pellucidum | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001651 | Dextrocardia | Occasional (29-5%) |
| HP:0001696 | Situs inversus totalis | Occasional (29-5%) |
| HP:0001840 | Metatarsus adductus | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004307 | Abnormal anatomic location of the heart | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010935 | Abnormality of the upper urinary tract | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000581 | Blepharophimosis | 8 |
| HP:0001166 | Arachnodactyly | 4 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000369 | Low-set ears | 3 |
| HP:0001508 | Failure to thrive | 3 |
| HP:0002751 | Kyphoscoliosis | 3 |
| HP:0000602 | Ophthalmoplegia | 2 |
| HP:0002803 | Congenital contracture | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0002021 | Pyloric stenosis | 1 |
| HP:0002375 | Hypokinesia | 1 |
| HP:0002486 | Myotonia | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002828 | Multiple joint contractures | 1 |