| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
1395080 |
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. Kalam MA, Hafeez W. Clin Genet. 1992;42(3):110-3. |
| Long philtrum Micrognathia | ||
| Child, Preschool Failure to Thrive Females Homo sapiens Hypoparathyroidism Intellectual Disability Seizures Syndrome | ||
| 2 (61.8%) |
1574477 |
Oral-facial-digital type 1 syndrome of Papillon-Leage and Psaume. Larralde de Luna M, Raspa ML, Ibargoyen J. Pediatr Dermatol. 1992;9(1):52-6. |
| Micrognathia Brachydactyly Frontal bossing | ||
| Females Homo sapiens Infant, Newborn Orofaciodigital Syndromes | ||
| 3 (61.8%) |
2729348 |
Acrocallosal syndrome in a girl born to consanguineous parents. Salgado LJ, Ali CA, Castilla EE. Am J Med Genet. 1989;32(3):298-300. |
| Macrocephaly Short philtrum Tapered finger | ||
| Females Genes, Recessive Homo sapiens Infant Intellectual Disability Syndrome | ||
| 4 (61.0%) |
21204228 |
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. Mark PR, Torres-Martinez W, Lachman RS, Weaver DD. Am J Med Genet A. 2011;155A(1):174-9. |
| Mesomelia Flat face | ||
| COL2A1 | ||
| c|SUB|C|2957|T p|SUB|P|786|L;RS#:773380247 p|SUB|P|986|L | ||
| Adult Females Genome-Wide Association Study Homo sapiens Infant Male Middle Aged Missense Mutation Osteochondrodysplasias Phenotype Sequence Analysis, DNA | ||
| 5 (60.5%) |
19300371 |
Oral implant rehabilitation in a patient with Moebius syndrome. Escoda-Francoli J, Sanchez-Garces MA, Gay-Escoda C. Med Oral Patol Oral Cir Bucal. 2009;14(6):E295-8. |
| Glossoptosis Micrognathia | ||
| Females Homo sapiens Middle Aged Mobius Syndrome | ||
| 5 (60.5%) |
12210581 |
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A. Prenat Diagn. 2002;22(8):710-4. |
| Glossoptosis Micrognathia | ||
| Adult Craniofacial Dysostosis Fatal Outcome Females Gestational Age Homo sapiens Mandible Micrognathism Microstomia Pregnancy Ultrasonography, Prenatal | ||
| 7 (60.4%) |
16094674 |
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. Ounap K, Ilus T, Laidre P, Uibo O, Tammur P, Bartsch O. Am J Med Genet A. 2005;137A(3):323-7. |
| Pierre-Robin sequence Micrognathia | ||
| Celiac Disease Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 2 Cleft Palate Developmental Disabilities Failure to Thrive Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Male Micrognathism Short Tandem Repeat Tongue | ||
| 8 (59.0%) |
12405447 |
Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum. Balci S, Teksam O, Gedik S. Turk J Pediatr. 2002;44(3):274-7. |
| Micrognathia Depressed nasal bridge | ||
| Cornea Fatal Outcome Females Head Homo sapiens Infant Intellectual Disability Syndrome | ||
| 9 (57.8%) |
29061174 (5654040) |
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report. Al Dhaibani MA, Allingham-Hawkins D, El-Hattab AW. BMC Med Genet. 2017;18(1):118. |
| Microcephaly Microretrognathia | ||
| Chromosomal Duplication Chromosomes, Human, Pair 7 Gene Amplification Homo sapiens Infant Male N-Acetylgalactosaminyltransferases | ||
| 9 (57.8%) |
26084782 |
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. Miller K, Abukabbos H, Mugayar L. Spec Care Dentist. 2015;35(5):253-257. |
| Micrognathia | ||
Total: 4
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000193 | Bifid uvula | Obligate (100%) |
| HP:0008376 | Nasal, dysarthic speech | Frequent (79-30%) |
| HP:0011819 | Submucous cleft soft palate | Occasional (29-5%) |
| HP:0410030 | Cleft lip | Occasional (29-5%) |
Total: 110
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000316 | Hypertelorism | 22 |
| HP:0005116 | Arterial tortuosity | 11 |
| HP:0000278 | Retrognathia | 7 |
| HP:0000347 | Micrognathia | 6 |
| HP:0000668 | Hypodontia | 6 |
| HP:0000486 | Strabismus | 5 |
| HP:0000508 | Ptosis | 5 |
| HP:0004322 | Short stature | 5 |
| HP:0000023 | Inguinal hernia | 4 |
| HP:0000028 | Cryptorchidism | 4 |
| HP:0000047 | Hypospadias | 4 |
| HP:0010296 | Ankyloglossia | 4 |
| HP:0000162 | Glossoptosis | 3 |
| HP:0000196 | Lower lip pit | 3 |
| HP:0002617 | Dilatation | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0410030 | Cleft lip | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000343 | Long philtrum | 2 |
| HP:0000568 | Microphthalmia | 2 |
| HP:0000589 | Coloboma | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0001511 | Intrauterine growth retardation | 2 |
| HP:0001537 | Umbilical hernia | 2 |
| HP:0004942 | Aortic aneurysm | 2 |
| HP:0005280 | Depressed nasal bridge | 2 |
| HP:0010297 | Bifid tongue | 2 |
| HP:0012385 | Camptodactyly | 2 |
| HP:0045025 | Narrow palpebral fissure | 2 |
| HP:0100259 | Postaxial polydactyly | 2 |
| HP:0000098 | Tall stature | 1 |
| HP:0000180 | Lobulated tongue | 1 |
| HP:0000187 | Broad alveolar ridges | 1 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000276 | Long face | 1 |
| HP:0000308 | Microretrognathia | 1 |
| HP:0000319 | Smooth philtrum | 1 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000358 | Posteriorly rotated ears | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000389 | Chronic otitis media | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000483 | Astigmatism | 1 |
| HP:0000490 | Deeply set eye | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0000592 | Blue sclerae | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000678 | Dental crowding | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000767 | Pectus excavatum | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000958 | Dry skin | 1 |
| HP:0000960 | Sacral dimple | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001056 | Milia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001182 | Tapered finger | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001324 | Muscle weakness | 1 |
| HP:0001374 | Congenital hip dislocation | 1 |
| HP:0001382 | Joint hypermobility | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001540 | Diastasis recti | 1 |
| HP:0001611 | Nasal speech | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0001642 | Pulmonic stenosis | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0002000 | Short columella | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002217 | Slow-growing hair | 1 |
| HP:0002557 | Hypoplastic nipples | 1 |
| HP:0002647 | Aortic dissection | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0003298 | Spina bifida occulta | 1 |
| HP:0005113 | Aortic arch aneurysm | 1 |
| HP:0005349 | Hypoplasia of the epiglottis | 1 |
| HP:0006304 | Widely-spaced incisors | 1 |
| HP:0008749 | Laryngeal hypoplasia | 1 |
| HP:0010749 | Blepharochalasis | 1 |
| HP:0010807 | Open bite | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0011364 | White hair | 1 |
| HP:0011502 | Posterior lenticonus | 1 |
| HP:0012368 | Flat face | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030056 | Uncombable hair | 1 |
| HP:0030260 | Microphallus | 1 |
| HP:0031353 | Otitis media with effusion | 1 |
| HP:0031655 | Quadricuspid aortic valve | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100267 | Lip pit | 1 |
| HP:0100333 | Unilateral cleft lip | 1 |
| HP:0100753 | Schizophrenia | 1 |