| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
17009344 |
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L. Prenat Diagn. 2006;26(12):1151-5. |
| Osteopenia Micromelia | ||
| FLNA FLNB FLNC | ||
| Adult Autopsy Cleft Palate Contractile Proteins Cytogenetic Analysis Face Females Fetal Diseases Filamins Homo sapiens Microfilament Proteins Mutation Osteochondrodysplasias Polydactyly Pregnancy Ultrasonography | ||
| 2 (41.7%) |
21412975 |
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. Murphy-Ryan M, Babovic-Vuksanovic D, Lindor N. Am J Med Genet A. 2011;155A(4):855-9. |
| Dandy-Walker malformation Bifid tongue | ||
| FLNA | ||
| c|SUB|C|514|G | ||
| Amino Acid Substitution Brain Congenital Hand Deformities Contractile Proteins Corneal Opacity Craniofacial Abnormalities Dandy-Walker Syndrome Filamins Homo sapiens Infant, Newborn Male Microfilament Proteins Mutation Osteochondrodysplasias Phenotype | ||
| 3 (32.7%) |
27625837 |
Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation. Sankararaman S, Kurepa D, Shen Y, Kakkilaya V, Ursin S, Chen H. J Pediatr Genet. 2013;2(1):33-6. |
| Hearing impairment Bowing of the long bones | ||
| FLNA | ||
| c|SUB|G|5290|A;RS#:57108893 c|SUB|T|613|C p|SUB|A|1764|T;RS#:57108893 p|SUB|C|205|R | ||
| 4 (21.2%) |
17431908 |
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. Marino-Enriquez A, Lapunzina P, Robertson SP, Rodriguez JI. Am J Med Genet A. 2007;143A(10):1120-5. |
| Skeletal dysplasia | ||
| DMD FLNA UTRN | ||
| c|SUB|G|629|T;RS#:137853318 p|SUB|C|210|F;RS#:137853318 rs137853318 |SUB|A|629|G,T | ||
| Amino Acid Sequence Autopsy Bone Diseases, Developmental Contractile Proteins DNA Mutational Analysis Filamins Fingers Genetic Diseases, X-Linked Homo sapiens Male Microfilament Proteins Molecular Sequence Data Palate Point Mutation Sequence Homology, Amino Acid Sibling Syndrome |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000239 | Large fontanelles | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000377 | Abnormality of the pinna | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000674 | Anodontia | Very frequent (99-80%) |
| HP:0000677 | Oligodontia | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0002089 | Pulmonary hypoplasia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0009778 | Short thumb | Very frequent (99-80%) |
| HP:0010109 | Short hallux | Very frequent (99-80%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000162 | Glossoptosis | Frequent (79-30%) |
| HP:0000201 | Pierre-Robin sequence | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001539 | Omphalocele | Frequent (79-30%) |
| HP:0001654 | Abnormal heart valve morphology | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002684 | Thickened calvaria | Frequent (79-30%) |
| HP:0002738 | Hypoplastic frontal sinuses | Frequent (79-30%) |
| HP:0002869 | Flared iliac wings | Frequent (79-30%) |
| HP:0002990 | Fibular aplasia | Frequent (79-30%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Frequent (79-30%) |
| HP:0006000 | Ureteral obstruction | Frequent (79-30%) |
| HP:0011001 | Increased bone mineral density | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0001087 | Developmental glaucoma | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002475 | Myelomeningocele | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0005048 | Synostosis of carpal bones | Occasional (29-5%) |
| HP:0008368 | Tarsal synostosis | Occasional (29-5%) |
| HP:0009702 | Carpal synostosis | Occasional (29-5%) |
| HP:0100258 | Preaxial polydactyly | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000938 | Osteopenia | 1 |
| HP:0002983 | Micromelia | 1 |
| HP:0010297 | Bifid tongue | 1 |
| HP:0100774 | Hyperostosis | 1 |