| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
12072800 |
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. Nakane T, Mizobe N, Hayashibe H, Nakazawa S. Clin Dysmorphol. 2002;11(3):195-8. |
| Brachycephaly | ||
| rs727502769 rs727502814 | ||
| Cataract Craniosynostosis Deafness Homo sapiens Infant Intellectual Disability Male | ||
| 1 (39.0%) |
8867660 |
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Ayme S, Philip N. Clin Dysmorphol. 1996;5(1):55-60. |
| Brachycephaly | ||
| rs727502766 rs727502812 | ||
| Cataract Deafness Females Homo sapiens Infant, Newborn Intellectual Disability Microstomia Syndrome | ||
| 3 (35.3%) |
17394214 |
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Holder AM, Graham BH, Lee B, Scott DA. Am J Med Genet A. 2007;143A(21):2576-80. |
| Cataract Brachydactyly | ||
| Adult Child Child, Preschool Females Genes, Recessive Growth Disorders Homo sapiens Infant Male Syndrome |
Total: 66
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000239 | Large fontanelles | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000519 | Developmental cataract | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000586 | Shallow orbits | Frequent (79-30%) |
| HP:0000677 | Oligodontia | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001357 | Plagiocephaly | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0001488 | Bilateral ptosis | Frequent (79-30%) |
| HP:0001838 | Rocker bottom foot | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002209 | Sparse scalp hair | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0005487 | Prominent metopic ridge | Frequent (79-30%) |
| HP:0007099 | Arnold-Chiari type I malformation | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0011333 | Asymmetric crying face | Frequent (79-30%) |
| HP:0012385 | Camptodactyly | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000093 | Proteinuria | Occasional (29-5%) |
| HP:0000270 | Delayed cranial suture closure | Occasional (29-5%) |
| HP:0000402 | Stenosis of the external auditory canal | Occasional (29-5%) |
| HP:0000485 | Megalocornea | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000527 | Long eyelashes | Occasional (29-5%) |
| HP:0000765 | Abnormality of the thorax | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001698 | Pericardial effusion | Occasional (29-5%) |
| HP:0001701 | Pericarditis | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002373 | Febrile seizures | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002680 | J-shaped sella turcica | Occasional (29-5%) |
| HP:0002974 | Radioulnar synostosis | Occasional (29-5%) |
| HP:0003187 | Breast hypoplasia | Occasional (29-5%) |
| HP:0005815 | Supernumerary ribs | Occasional (29-5%) |
| HP:0012770 | Reduced arm span | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000248 | Brachycephaly | 1 |
| HP:0000518 | Cataract | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|