| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 30 (21.2%) |
27375131 |
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS. Am J Med Genet A. 2016;170(9):2310-21. |
| Intellectual disability Congenital contracture | ||
| CHST14 DGCR2 NCAM2 SCARF2 | ||
| p|SUB|L|870|V p|SUB|P|75|L;RS#:374854258 p|SUB|S|147|G;RS#:749451963 | ||
| Arachnodactyly Blepharophimosis Child Contracture DNA Copy Number Variations Exome Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Homozygote Male Multimodal Imaging Oligonucleotide Array Sequence Analysis Phenotype Scavenger Receptors, Class F Single Nucleotide Polymorphism | ||
| 32 (17.5%) |
3655749 |
[Value of muscle studies in the early diagnosis of Schwartz-Jampel syndrome]. Vanlieferighen P, Francannet C, Dechelotte P, Malpuech G, de Laguillaumie B, Storme B. J Genet Hum. 1987;35(4):243-9. |
| Myotonia | ||
| Child, Preschool Electromyography Homo sapiens Male Muscle Tissue Osteochondrodysplasias | ||
| 32 (17.5%) |
739527 |
The Marden-Walker syndrome. King CR, Magenis E. J Med Genet. 1978;15(5):366-9. |
| Hypotonia | ||
| Contracture Electromyography Face Growth Disorders Homo sapiens Infant Joints Male Muscle Tissue Phenotype Syndrome | ||
| 34 (4.0%) |
27714920 |
Familial Gordon syndrome associated with a PIEZO2 mutation. Alisch F, Weichert A, Kalache K, Paradiso V, Longardt AC, Dame C, Hoffmann K, Horn D. Am J Med Genet A. 2017;173(1):254-259. |
| Ptosis | ||
| PIEZO2 | ||
| c|SUB|G|8057|A;RS#:587777450 p|SUB|R|2686|H;RS#:587777450 rs587777450 | ||
| Adult Alleles Amino Acid Substitution Arthrogryposis Child, Preschool Cleft Palate Congenital Hand Deformities DNA Mutational Analysis Exons Facies Genetic Association Studies Genotype Homo sapiens Infant, Newborn Ion Channel Male Mutation Phenotype Ultrasonography, Prenatal | ||
| 34 (4.0%) |
15053474 |
Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. Mboyo A, Flurin V, Bah AG, Emam N, Fenni T, Weil D. Acta Chir Belg. 2004;104(1):101-3. |
| Volvulus | ||
| Blepharophimosis Cecal Diseases Child, Preschool Females Homo sapiens Intellectual Disability Intestinal Volvulus Syndrome | ||
| 34 (4.0%) |
9286445 |
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS. Am J Med Genet. 1997;71(4):401-5. |
| Cryptorchidism | ||
| Child Craniofacial Abnormalities Differential Diagnosis Eye Abnormalities Females Homo sapiens Intelligence Male Syndrome | ||
| 34 (4.0%) |
1519648 |
Early neurological manifestations and brain anomalies in Marden-Walker syndrome. Garcia-Alix A, Blanco D, Cabanas F, Garcia Sanchez P, Pellicer A, Quero J. Am J Med Genet. 1992;44(1):41-5. |
| Primitive reflex | ||
| Biopsy Brain Central Nervous System Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Muscle Tissue 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 |