| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (71.3%) |
21548129 (3109510) |
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr. Am J Med Genet A. 2011;155A(6):1336-51. |
| Micrognathia Short nose Small hand Cleft lip | ||
| CENPL DNM3 PCNT | ||
| Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Face Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Microarray Analysis Phenotype Syndrome Young Adult | ||
| 2 (50.5%) |
15737708 |
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M. Brain Dev. 2005;27(3):237-40. |
| Microcephaly Metaphyseal cupping | ||
| Bone and Bones Brain Child, Preschool Dwarfism Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Microcephaly | ||
| 2 (50.5%) |
9800908 |
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Majewski F, Goecke TO. Am J Med Genet. 1998;80(1):25-31. |
| Microcephaly Coxa vara Pseudoepiphyses | ||
| Child Child, Preschool Dwarfism Facies Homo sapiens Infant Infant, Newborn Intellectual Disability Male Microcephaly Osteochondrodysplasias | ||
| 4 (49.2%) |
24928221 (4086705) |
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. Pachajoa H, Ruiz-Botero F, Isaza C. J Med Case Rep. 2014;8:191. |
| Microcephaly Narrow nose Coxa vara | ||
| PCNT | ||
| c|SUB|C|1468|T;RS#:181690344 | ||
| Antigens Child, Preschool Colombia Dwarfism Exons Fetal Growth Retardation Homo sapiens Male Microcephaly Mutation Osteochondrodysplasias | ||
| 5 (46.3%) |
8874115 |
Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. Spranger S, Tariverdian G, Albert FK, Sontheimer D, Zoller J, Weber M, Troger J. Eur J Pediatr. 1996;155(9):796-9. |
| Brachycephaly Knee dislocation | ||
| Craniosynostosis Dwarfism Fetal Growth Retardation Homo sapiens Infant Knee Male Microcephaly Syndrome | ||
| 6 (42.7%) |
19839044 |
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Am J Med Genet A. 2009;149A(11):2452-6. |
| Retrognathia | ||
| c|INS|1527_1528|A rs1217566598 rs1555954069 | ||
| Adult Antigens Base Sequence Bone and Bones Brain Case-Control Studies Child, Preschool DNA Mutational Analysis Differential Diagnosis Dwarfism Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Angiography Male Molecular Sequence Data Mutation Pregnancy Short Rib-Polydactyly Syndrome Syndrome Western Blotting | ||
| 7 (40.2%) |
15368497 |
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Am J Med Genet A. 2004;130A(1):55-72. |
| Microcephaly Prominent nose | ||
| Bone Diseases, Developmental Cerebral Arterial Diseases Child Child Development Child, Preschool Craniofacial Abnormalities Dwarfism Females Fetal Growth Retardation Head Homo sapiens Infant Infant, Newborn Male Personality Puberty Short Rib-Polydactyly Syndrome | ||
| 8 (39.0%) |
28955524 (5573462) |
Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. Terlemez A, Altunsoy M, Celebi H. J Istanb Univ Fac Dent. 2015;49(1):41-46. |
| Microcephaly | ||
| 8 (39.0%) |
27611897 |
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK. J Neurosurg Pediatr. 2016;25(6):717-723. |
| Microcephaly | ||
| Cerebrovascular Disorders Child Child, Preschool Dwarfism Females Fetal Growth Retardation Follow-Up Studies Homo sapiens Infant Male Microcephaly Osteochondrodysplasias Prospective Studies Registries | ||
| 8 (39.0%) |
24973050 |
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M. Eur J Pediatr. 2014;173(9):1253-6. |
| Microcephaly | ||
| PCNT | ||
| Adult Antigens Biological Markers Diagnostic Errors Differential Diagnosis Dwarfism Eczema Facies Fatal Outcome Fetal Growth Retardation Growth Disorders Homo sapiens Intellectual Disability Intracranial Aneurysm Male Microcephaly Mutation Osteochondrodysplasias Patient Transfer |
Total: 52
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000448 | Prominent nose | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001611 | Nasal speech | Very frequent (99-80%) |
| HP:0001620 | High pitched voice | Very frequent (99-80%) |
| HP:0002213 | Fine hair | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0002812 | Coxa vara | Very frequent (99-80%) |
| HP:0002866 | Hypoplastic iliac wing | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003275 | Narrow pelvis bone | Very frequent (99-80%) |
| HP:0003498 | Disproportionate short stature | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0009804 | Reduced number of teeth | Very frequent (99-80%) |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | Very frequent (99-80%) |
| HP:0000055 | Abnormality of female external genitalia | Frequent (79-30%) |
| HP:0000278 | Retrognathia | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000691 | Microdontia | Frequent (79-30%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0001053 | Hypopigmented skin patches | Frequent (79-30%) |
| HP:0001956 | Truncal obesity | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0007565 | Multiple cafe-au-lait spots | Frequent (79-30%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001297 | Stroke | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002617 | Dilatation | Occasional (29-5%) |
| HP:0002777 | Tracheal stenosis | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0045025 | Narrow palpebral fissure | Occasional (29-5%) |
| HP:0100545 | Arterial stenosis | Occasional (29-5%) |
| HP:0100659 | Abnormality of the cerebral vasculature | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 5 |
| HP:0001297 | Stroke | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0003021 | Metaphyseal cupping | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0010583 | Ivory epiphyses | 1 |
| HP:0100753 | Schizophrenia | 1 |