| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (49.1%) |
2325097 |
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. Meinecke P, Hayek H. J Med Genet. 1990;27(3):200-2. |
| Lobulated tongue Polydactyly | ||
| Homo sapiens Infant, Newborn Male Orofaciodigital Syndromes Radiography, Thoracic | ||
| 2 (47.3%) |
9555586 |
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. Moerman P, Fryns JP. Genet Couns. 1998;9(1):39-43. |
| Hydrocephalus Short ribs Micromelia | ||
| Differential Diagnosis Fetal Death Homo sapiens Infant, Newborn Male Orofaciodigital Syndromes Phenotype Short Rib-Polydactyly Syndrome | ||
| 3 (31.0%) |
17535085 |
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. Kahl P, Heukamp LC, Buettner R, Friedrichs N, Roesing B, Knopfle G. Pediatr Dev Pathol. 2007;10(3):239-43. |
| Hypertelorism Preaxial polydactyly | ||
| Autopsy Family Females Fetus Homo sapiens Male Orofaciodigital Syndromes Pregnancy Pregnancy Trimester, First Pregnancy Trimester, Second Sibling | ||
| 4 (4.0%) |
25118024 |
Tectonic gene mutations in patients with Joubert syndrome. Huppke P, Wegener E, Bohrer-Rabel H, Bolz HJ, Zoll B, Gartner J, Bergmann C. Eur J Hum Genet. 2015;23(5):616-20. |
| Coloboma | ||
| rs863225425 | ||
| Adaptor Proteins, Signal Transducing Apoptosis Regulatory Proteins Cerebellum Cystic Kidney Diseases DNA Mutational Analysis Eye Abnormalities Females Genotype High-Throughput Nucleotide Sequencing Homo sapiens Infant Intracellular Signaling Peptides and Proteins Magnetic Resonance Imaging Male Membrane Proteins Mutation Phenotype Retina | ||
| 4 (4.0%) |
18383484 |
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. Rosing B, Kempe A, Berg C, Kahl P, Knopfle G, Gembruch U, Geipel A. Ultrasound Obstet Gynecol. 2008;31(4):457-60. |
| Increased nuchal translucency | ||
| Adult Early Diagnosis Females Homo sapiens Male Orofaciodigital Syndromes Pregnancy Pregnancy Trimester, First |
Total: 69
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000157 | Abnormality of the tongue | Very frequent (99-80%) |
| HP:0000161 | Median cleft lip | Very frequent (99-80%) |
| HP:0000168 | Abnormality of the gingiva | Very frequent (99-80%) |
| HP:0000190 | Abnormal oral frenulum morphology | Very frequent (99-80%) |
| HP:0000202 | Oral cleft | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000356 | Abnormality of the outer ear | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0000453 | Choanal atresia | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000496 | Abnormality of eye movement | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001177 | Preaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001367 | Abnormal joint morphology | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001562 | Oligohydramnios | Very frequent (99-80%) |
| HP:0001601 | Laryngomalacia | Very frequent (99-80%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
| HP:0002970 | Genu varum | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0008734 | Decreased testicular size | Very frequent (99-80%) |
| HP:0009118 | Aplasia/Hypoplasia of the mandible | Very frequent (99-80%) |
| HP:0010285 | Oral synechia | Very frequent (99-80%) |
| HP:0010469 | Absent testis | Very frequent (99-80%) |
| HP:0010566 | Hamartoma | Very frequent (99-80%) |
| HP:0011267 | Microtia, third degree | Very frequent (99-80%) |
| HP:0011830 | Abnormal oral mucosa morphology | Very frequent (99-80%) |
| HP:0030868 | Monorchism | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000176 | Submucous cleft hard palate | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001171 | Split hand | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0012157 | Subcortical cerebral atrophy | Frequent (79-30%) |
| HP:0100308 | Cerebral cortical hemiatrophy | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000143 | Rectovaginal fistula | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000598 | Abnormality of the ear | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0004871 | Perineal fistula | Occasional (29-5%) |
| HP:0005944 | Bilateral lung agenesis | Occasional (29-5%) |
| HP:0008207 | Primary adrenal insufficiency | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0011255 | Absent crus of helix | Occasional (29-5%) |
| HP:0025023 | Rectal atresia | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|