| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
14998213 |
Lenz microphthalmia syndrome with dental anomalies: a case report. Ersin NK, Tugsel Z, Gokce B, Ozpinar B, Eronat N. J Dent Child (Chic). 2003;70(3):262-5. |
| Micrognathia Hypodontia | ||
| Dental Pulp Cavity Follow-Up Studies Growth Disorders Homo sapiens Incisor Male Microcephaly Micrognathism Microphthalmos Syndrome Tooth Abnormalities | ||
| 2 (54.4%) |
24131950 |
Lenz micropthalmia syndrome with associated orbital cysts. Rafailov L, Dattilo M, Shinder R. Ophthalmic Plast Reconstr Surg. 2014;30(4):e82-4. |
| Microcephaly Widely spaced teeth Orbital cyst Syndactyly | ||
| Anophthalmos Child Cyst Homo sapiens Male Microphthalmos Visual Acuity X-Ray Computed Tomography | ||
| 3 (48.8%) |
11426460 |
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. Am J Med Genet. 2001;98(1):92-100. |
| Microcephaly Syndactyly | ||
| rs587776457 | ||
| Adult Child Craniofacial Abnormalities Haplotypes Heterozygote Homo sapiens Infant Intellectual Disability Lod Score Male Microphthalmos Physical Chromosome Mapping X Chromosome | ||
| 4 (39.0%) |
30450806 |
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C. Am J Med Genet A. 2018;176(12):2872-2876. |
| Microcephaly | ||
| BCOR | ||
| p|SUB|P|85|L;RS#:121434618 | ||
| Amino Acid Substitution Anophthalmos DNA Mutational Analysis Differential Diagnosis Females Genes, X-Linked Homo sapiens Magnetic Resonance Imaging Male Microphthalmos Mutation Penetrance Phenotype Proto-Oncogene Proteins Repressor Proteins | ||
| 4 (39.0%) |
18618992 |
Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations. Okumus N, Zenciroglu A, Demirel N, Bas AY, Ceylaner S. Genet Couns. 2008;19(2):177-82. |
| Microcephaly | ||
| Anophthalmos Chest Homo sapiens Infant, Newborn Male Microphthalmos Syndrome Toes | ||
| 4 (39.0%) |
17951907 (2635974) |
Lenz microphthalmic syndrome in an Indian patient. Gupta A, Srinivasan R, Pandian DG, Babu KR. Indian J Ophthalmol. 2007;55(6):462-3. |
| Microcephaly | ||
| Craniofacial Abnormalities Differential Diagnosis Follow-Up Studies Homo sapiens Hypospadias Infant Intellectual Disability Male Microcephaly Microphthalmos Syndrome X-Ray Computed Tomography | ||
| 4 (39.0%) |
17033686 |
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Martinez-Garay I, Tomas M, Oltra S, Ramser J, Molto MD, Prieto F, Meindl A, Kutsche K, Martinez F. Eur J Hum Genet. 2007;15(1):29-34. |
| Microcephaly | ||
| BCOR DLG3 PQBP1 | ||
| c|DEL|461_462|AG;RS#:606231195 rs606231193 | ||
| Adult Carrier Proteins Child, Preschool Chromosomes, Human, X DNA-Binding Proteins Females Gene Deletion Genes, X-Linked Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Male Microcephaly Microphthalmos Nuclear Proteins Syndrome | ||
| 4 (39.0%) |
15216542 |
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U. Am J Med Genet A. 2004;128A(3):232-4. |
| Microcephaly | ||
| Cataract Face Homo sapiens Hypogonadism Infant Magnetic Resonance Imaging Male Microphthalmos Syndrome | ||
| 4 (39.0%) |
3276203 |
The Lenz microphthalmia syndrome. Traboulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae WG, Maumenee IH. Am J Ophthalmol. 1988;105(1):40-5. |
| Microcephaly | ||
| Child, Preschool Homo sapiens Infant Male Microphthalmos Syndrome X Chromosome | ||
| 10 (36.0%) |
6404532 |
Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies. Glanz A, Forse A, Polomeno RC, Cole DE. Can J Ophthalmol. 1983;18(1):41-4. |
| Webbed neck Synophrys Cryptophthalmos | ||
| Child, Preschool Eye Abnormalities Face Homo sapiens Male Microphthalmos Syndrome |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000072 | Hydroureter | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000202 | Oral cleft | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000482 | Microcornea | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000567 | Chorioretinal coloboma | Frequent (79-30%) |
| HP:0000588 | Optic nerve coloboma | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0006482 | Abnormality of dental morphology | Frequent (79-30%) |
| HP:0008572 | External ear malformation | Frequent (79-30%) |
| HP:0008678 | Renal hypoplasia/aplasia | Frequent (79-30%) |
| HP:0009943 | Complete duplication of thumb phalanx | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000465 | Webbed neck | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000889 | Abnormality of the clavicle | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003043 | Abnormality of the shoulder | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0009755 | Ankyloblepharon | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
| HP:0100818 | Long thorax | Occasional (29-5%) |
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000568 | Microphthalmia | 5 |
| HP:0000252 | Microcephaly | 4 |
| HP:0000528 | Anophthalmia | 4 |
| HP:0000518 | Cataract | 2 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0008453 | Congenital kyphoscoliosis | 1 |
| HP:0012430 | Cerebral white matter hypoplasia | 1 |