| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.5%) |
12457407 |
Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS. Am J Med Genet. 2002;113(4):351-61. |
| Short tubular bones of the hand Frontal bossing | ||
| Adult Body Height Craniofacial Abnormalities Differential Diagnosis Females Homo sapiens Osteochondrodysplasias Syndactyly | ||
| 2 (57.0%) |
16531729 |
3-M syndrome: a report of three Egyptian cases with review of the literature. Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. Clin Dysmorphol. 2006;15(2):55-64. |
| Long philtrum Slender long bone Hyperlordosis | ||
| rs121918216 | ||
| Adult Asians Child Congenital Hand Deformities Differential Diagnosis Egypt Family Females Homo sapiens Male Syndrome Tooth Abnormalities | ||
| 3 (49.7%) |
23517720 (3608257) |
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M. Ital J Pediatr. 2013;39:21. |
| Synophrys Hip dislocation Short thorax | ||
| CCDC8 CUL7 GH1 OBSL1 | ||
| Biological Markers Body Height Bone and Bones Chromosome Deletion Cullin Proteins Dwarfism Exons Face Follow-Up Studies Homo sapiens Human Growth Hormone Male Mutation | ||
| 4 (40.2%) |
25817395 |
Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations. Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. Eur J Med Genet. 2015;58(5):310-8. |
| Frontal bossing | ||
| FOXC1 FOXF2 NRN1 SERPINB6 TUBB2A | ||
| Child Chromosomal Duplication Chromosome Deletion Chromosomes, Human, Pair 6 Females Forkhead Transcription Factors GPI-Linked Proteins Genetic Association Studies Homo sapiens Neuropeptides Serpins Tubulin | ||
| 5 (39.0%) |
12174011 |
3-M syndrome in two sisters. Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K. J Paediatr Child Health. 2002;38(4):419-22. |
| Microcephaly | ||
| Dwarfism Facies Females Fetal Growth Retardation Homo sapiens Infant, Newborn Syndrome | ||
| 6 (38.6%) |
23457316 |
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. Demir K, Altnck A, Bober E. J Pediatr Endocrinol Metab. 2013;26(1-2):147-50. |
| Hyperlordosis Prominent forehead | ||
| OBSL1 | ||
| c|INDEL|457_458|T p|FS|G|153|| | ||
| Body Height Child Cytoskeletal Proteins Dwarfism Follow-Up Studies Homo sapiens Infant Male Missense Mutation Severity of Illness Index | ||
| 7 (37.2%) |
16586274 |
[3M syndrome: case history]. Fehlow P. Klin Padiatr. 2006;218(5):287-91. |
| Short neck | ||
| Bone Diseases, Developmental Child Differential Diagnosis Dwarfism Follow-Up Studies Genetic Counseling Homo sapiens Intellectual Disability Male Syndrome | ||
| 8 (33.7%) |
27796265 (5363173) |
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. Keskin M, Muratoglu ahin N, Kurnaz E, Bayramoglu E, Savas Erdeve , Aycan Z, Cetinkaya S. J Clin Res Pediatr Endocrinol. 2017;9(1):91-94. |
| Pointed chin Long philtrum | ||
| OBSL1 | ||
| p|FS|T|425|N|40;RS#:762334954 rs762334954 | ||
| Cytoskeletal Proteins Dwarfism Females Genetic Predisposition to Disease Growth Hormone Heterozygote Homo sapiens Homozygote Infant Male Mutation | ||
| 9 (32.2%) |
21911330 (3184518) |
3M syndrome: a report of four cases in two families. Guven A, Cebeci AN. J Clin Res Pediatr Endocrinol. 2011;3(3):154-9. |
| Slender long bone | ||
| GH1 | ||
| Child Dwarfism Females Homo sapiens Intellectual Disability Male | ||
| 9 (32.2%) |
21166787 |
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N. Clin Genet. 2011;80(5):478-83. |
| Inguinal hernia Slender long bone | ||
| CUL7 | ||
| c|SUB|G|2975|C | ||
| Child, Preschool Chromosomes, Human, Pair 6 Cullin Proteins Dwarfism Females Homo sapiens Intellectual Disability Male Missense Mutation Uniparental Disomy |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000414 | Bulbous nose | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001838 | Rocker bottom foot | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003100 | Slender long bone | Very frequent (99-80%) |
| HP:0003173 | Hypoplastic pubic bone | Very frequent (99-80%) |
| HP:0003175 | Hypoplastic ischia | Very frequent (99-80%) |
| HP:0003691 | Scapular winging | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004570 | Increased vertebral height | Very frequent (99-80%) |
| HP:0008839 | Hypoplastic pelvis | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000307 | Pointed chin | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000682 | Abnormality of dental enamel | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000883 | Thin ribs | Frequent (79-30%) |
| HP:0000888 | Horizontal ribs | Frequent (79-30%) |
| HP:0002983 | Micromelia | Frequent (79-30%) |
| HP:0003022 | Hypoplasia of the ulna | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009811 | Abnormality of the elbow | Frequent (79-30%) |
| HP:0010306 | Short thorax | Frequent (79-30%) |
| HP:0100625 | Enlarged thorax | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000144 | Decreased fertility | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0100659 | Abnormality of the cerebral vasculature | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008897 | Postnatal growth retardation | 4 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002827 | Hip dislocation | 1 |
| HP:0003100 | Slender long bone | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0003498 | Disproportionate short stature | 1 |
| HP:0003502 | Mild short stature | 1 |
| HP:0003508 | Proportionate short stature | 1 |