| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
23633430 |
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B. Am J Med Genet A. 2013;161A(6):1453-8. |
| Autism | ||
| CRK PAFAH1B1 YWHAE | ||
| 14-3-3 Proteins Chromosomal Duplication Classical Lissencephalies and Subcortical Band Het... DNA DNA, Complementary Developmental Disabilities Females Fluorescent in Situ Hybridization Haploinsufficiency Homo sapiens Infant Intellectual Disability Introns Lissencephaly Microtubule-Associated Proteins Phenotype RNA Sequence Analysis, DNA Sequence Inversion |
Total: 19
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000098 | Tall stature | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|