| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.6%) |
9128933 |
VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. Lurie IW, Ferencz C. Am J Med Genet. 1997;70(2):144-9. |
| Anal atresia Phocomelia | ||
| Brain Cleft Palate Congenital Heart Defects Ectromelia Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Phenotype Rectum X Chromosome | ||
| 2 (31.0%) |
3287923 |
XK aprosencephaly and anencephaly in sibs. Townes PL, Reuter K, Rosquete EE, Magee BD. Am J Med Genet. 1988;29(3):523-8. |
| Anencephaly Oligodactyly | ||
| Adult Anencephaly Brain Face Females Homo sapiens Infant, Newborn Pregnancy Syndrome Ultrasonography | ||
| 3 (4.0%) |
15329833 |
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? McPherson E, Huff D, Dunn J, Muenke M. Birth Defects Res A Clin Mol Teratol. 2004;70(8):537-44. |
| Coloboma | ||
| ZIC2 | ||
| Embryonic Development Females Homo sapiens Leg Male Pregnancy Prosencephalon Syndrome | ||
| 3 (4.0%) |
9571288 |
XK aprosencephaly. al-Gazali LI, Bakalinova D, Bakir M, Nath KN. Clin Dysmorphol. 1998;7(2):143-7. |
| Ambiguous genitalia | ||
| Eye Abnormalities Homo sapiens Infant, Newborn Male Male Genital Organs Prosencephalon Syndrome X-Ray Computed Tomography | ||
| 3 (4.0%) |
9332662 |
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. Am J Med Genet. 1997;72(3):319-23. |
| Ambiguous genitalia | ||
| Chromosome Banding Chromosomes, Human, Pair 13 Congenital Heart Defects DNA Mutational Analysis Dinucleotide Repeats Gene Deletion Genetic Polymorphism Homo sapiens Male Microcephaly Phenotype Ring Chromosomes Short Tandem Repeat Syndrome | ||
| 3 (4.0%) |
8256818 |
Mosaic r(13) in an infant with aprosencephaly. Goldsmith CL, Tawagi GF, Carpenter BF, Speevak MD, Hunter AG. Am J Med Genet. 1993;47(4):531-3. |
| Cerebellar hypoplasia | ||
| Brain Chromosomes, Human, Pair 13 Homo sapiens Infant, Newborn Male Mosaicism Ring Chromosomes Syndrome | ||
| 3 (4.0%) |
2339594 |
Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. Kim TS, Cho S, Dickson DW. Acta Neuropathol. 1990;79(4):424-31. |
| Abnormal external genitalia | ||
| Brain Brain Diseases Cerebellum Cyst Females Homo sapiens Infant, Newborn | ||
| 3 (4.0%) |
114053 |
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED. Am J Med Genet. 1979;3(3):301-9. |
| Cryptorchidism | ||
| Brain Eye Abnormalities Face Forearm Homo sapiens Infant, Newborn Male Male Genital Organs Syndrome |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000600 | Abnormality of the pharynx | Frequent (79-30%) |
| HP:0000811 | Abnormal external genitalia | Frequent (79-30%) |
| HP:0002023 | Anal atresia | Frequent (79-30%) |
| HP:0005288 | Abnormality of the nares | Frequent (79-30%) |
| HP:0045009 | Abnormal morphology of the radius | Frequent (79-30%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007268 | Aprosencephaly | 4 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0009829 | Phocomelia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|