| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
23913798 |
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Am J Med Genet A. 2013;161A(9):2339-46. |
| Micrognathia Mandibular condyle hypoplasia | ||
| Adult Ear Diseases Females Genes, Recessive Homo sapiens Infant, Newborn Male Mutation Phenotype Phospholipase C beta RNA Splice Sites Sequence Analysis, DNA | ||
| 2 (4.0%) |
24268655 |
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Am J Hum Genet. 2013;93(6):1118-25. |
| Falls | ||
| EDN1 EDNRA GNAI3 PLCB4 | ||
| rs587777231 rs587777232 rs587777233 rs587777234 | ||
| Amino Acid Sequence Amino Acid Substitution DNA Mutational Analysis Ear Diseases Endothelin-1 Females Genes, Dominant Genes, Recessive Genotype Homo sapiens Male Molecular Sequence Data Mutation Phenotype Sequence Alignment Signal Transduction |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007628 | Mandibular condyle hypoplasia | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0009902 | Cleft helix | Very frequent (99-80%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000162 | Glossoptosis | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000183 | Difficulty in tongue movements | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000377 | Abnormality of the pinna | Frequent (79-30%) |
| HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000689 | Dental malocclusion | Frequent (79-30%) |
| HP:0002098 | Respiratory distress | Frequent (79-30%) |
| HP:0002870 | Obstructive sleep apnea | Frequent (79-30%) |
| HP:0008772 | Aplasia/Hypoplasia of the external ear | Frequent (79-30%) |
| HP:0009895 | Abnormality of the crus of the helix | Frequent (79-30%) |
| HP:0010754 | Abnormality of the temporomandibular joint | Frequent (79-30%) |
| HP:0025267 | Snoring | Frequent (79-30%) |
| HP:0030022 | Question mark ear | Frequent (79-30%) |
| HP:0100277 | Periauricular skin pits | Frequent (79-30%) |
| HP:0000171 | Microglossia | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0007627 | Mandibular condyle aplasia | Occasional (29-5%) |
| HP:0011802 | Hamartoma of tongue | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0030713 | Vein of Galen aneurysmal malformation | Very rare (4-1%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0030022 | Question mark ear | 1 |