| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
25045026 |
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. Nayak SS, Kadavigere R, Mathew M, Kumar P, Hall JG, Girisha KM. Am J Med Genet A. 2014;164A(10):2643-8. |
| Micrognathia | ||
| MSMB | ||
| Arthrogryposis Cerebellar Diseases Cleft Palate Females Fetus Homo sapiens Phenotype | ||
| 1 (57.8%) |
11810649 |
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. Yfantis H, Nonaka D, Castellani R, Harman C, Sun CC. Prenat Diagn. 2002;22(1):42-7. |
| Micrognathia | ||
| Adult Amniocentesis Contracture Craniofacial Abnormalities Females Fetal Growth Retardation Gestational Age Homo sapiens Limb Deformities, Congenital Lung Male Polyhydramnios Pregnancy Spinal Cord Ultrasonography, Prenatal | ||
| 3 (37.8%) |
16231307 |
Early ultrasonographic changes in Fowler syndrome features and review of the literature. Usta IM, AbuMusa AA, Khoury NG, Nassar AH. Prenat Diagn. 2005;25(11):1019-23. |
| Facial edema Pterygium | ||
| Abortion, Eugenic Arthrogryposis Females Fetal Diseases Homo sapiens Hydranencephaly Limb Deformities, Congenital Pregnancy Pregnancy Outcome Syndrome Ultrasonography, Prenatal | ||
| 4 (36.8%) |
30719842 |
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Am J Med Genet A. 2019;179(4):655-658. |
| Late-onset proximal muscle weakness Ankyloglossia | ||
| MUSK | ||
| Child Cholinergic Receptors Heterozygote Homo sapiens Infant Male Mutation Phenotype Receptor Protein-Tyrosine Kinases Sibling Vocal Cord Paralysis | ||
| 5 (36.3%) |
9354846 |
Fetal akinesia deformation sequence in a highly developed acardius twin. Konstantinidou AE, Agapitos EV, Pavlopoulos PM, Davaris PS. Clin Dysmorphol. 1997;6(4):359-63. |
| Cystic hygroma Pterygium | ||
| Adult Diseases in Twins Females Fetal Death Homo sapiens Pregnancy | ||
| 6 (24.9%) |
11332983 |
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. Witters I, Moerman PH, Van Assche FA, Fryns JP. Genet Couns. 2001;12(1):91-4. |
| Cystic hygroma | ||
| Arthrogryposis Edema Fetus Homo sapiens Lymphatic System Lymphocele Male Ultrasonography, Prenatal | ||
| 7 (23.3%) |
3278614 |
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. Ohlsson A, Fong KW, Rose TH, Moore DC. Am J Med Genet. 1988;29(1):59-65. |
| Cryptorchidism Kyphosis | ||
| Contracture Females Fetal Movement Homo sapiens Infant, Newborn Lung Male Muscle Tissue Pregnancy Syndrome Thymus Hyperplasia Ultrasonography | ||
| 8 (22.8%) |
15192292 |
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. Makrydimas G, Sotiriadis A, Papapanagiotou G, Tsopelas A, Lolis D. Fetal Diagn Ther. 2004;19(4):332-5. |
| Edema Talipes | ||
| Adult Females Fetal Diseases Homo sapiens Pregnancy Pregnancy Trimester, First | ||
| 9 (21.2%) |
16147849 |
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. Giordano G, Gnetti L, Froio E, Ricci R. J Matern Fetal Neonatal Med. 2005;17(5):349-52. |
| Hypertelorism Multiple pterygia | ||
| RAPSN | ||
| Adult Craniofacial Abnormalities Differential Diagnosis Females Homo sapiens Limb Deformities, Congenital Pregnancy Pregnancy Trimester, Second Syndrome | ||
| 9 (21.2%) |
14968368 |
Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion. Garcia-Cabezas MA, Garcia-Alix A, Martin Y, Gutierrez M, Hernandez C, Rodriguez JI, Morales C. Acta Neuropathol. 2004;107(5):475-8. |
| Respiratory insufficiency Multiple joint contractures | ||
| SMN1 SMN2 | ||
| Chromosomes, Human, Pair 5 Contracture Cyclic AMP-Responsive DNA-Binding Protein DNA Mutational Analysis Gene Deletion Homo sapiens Infant, Newborn Male Nerve Tissue Proteins Polymerase Chain Reaction RNA-Binding Proteins Respiratory Insufficiency SMN Complex Proteins Spinal Cord Spinal Muscular Atrophies of Childhood Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein |
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0001262 | Excessive daytime somnolence | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001989 | Fetal akinesia sequence | Very frequent (99-80%) |
| HP:0002089 | Pulmonary hypoplasia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002304 | Akinesia | Very frequent (99-80%) |
| HP:0002375 | Hypokinesia | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0002828 | Multiple joint contractures | Very frequent (99-80%) |
| HP:0010489 | Absent palmar crease | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (79-30%) |
| HP:0000476 | Cystic hygroma | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003700 | Generalized amyotrophy | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0001059 | Pterygium | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0005245 | Intestinal hypoplasia | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001511 | Intrauterine growth retardation | 2 |
| HP:0001561 | Polyhydramnios | 2 |
| HP:0002089 | Pulmonary hypoplasia | 2 |
| HP:0002093 | Respiratory insufficiency | 2 |
| HP:0003198 | Myopathy | 2 |
| HP:0000476 | Cystic hygroma | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001196 | Short umbilical cord | 1 |
| HP:0001558 | Decreased fetal movement | 1 |
| HP:0002304 | Akinesia | 1 |
| HP:0003798 | Nemaline bodies | 1 |
| HP:0004934 | Vascular calcification | 1 |
| HP:0006515 | Interstitial pneumonitis | 1 |