| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22407754 |
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Am J Med Genet A. 2012;158A(4):861-8. |
| Microcephaly | ||
| MBD5 | ||
| Child, Preschool Chromosomes, Human, Pair 2 DNA-Binding Proteins Developmental Disabilities Homo sapiens Intellectual Disability Male Microcephaly Oligonucleotide Array Sequence Analysis Seizures Sequence Deletion | ||
| 1 (39.0%) |
19904302 |
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. Eur J Hum Genet. 2010;18(4):436-41. |
| Microcephaly | ||
| EPC2 MBD5 | ||
| Adult Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 DNA-Binding Proteins Females Fluorescent in Situ Hybridization Haplotypes Homo sapiens Intellectual Disability Male Microcephaly Oligonucleotide Array Sequence Analysis RNA, Messenger Reverse Transcriptase Polymerase Chain Reaction Seizures Speech Disorders Syndrome Young Adult | ||
| 3 (4.0%) |
22085900 |
Severe intellectual disability and autistic features associated with microduplication 2q23.1. Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Eur J Hum Genet. 2012;20(4):398-403. |
| Intellectual disability | ||
| ACVR2A EPC2 KIF5C LYPD6 LYPD6B MBD5 ORC4 | ||
| Chromosomes, Human, Pair 2 Cultured Cells DNA-Binding Proteins Developmental Disabilities Females Gene Duplication Homo sapiens Intellectual Disability Male Oligonucleotide Array Sequence Analysis |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000733 | Stereotypy | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0000749 | Paroxysmal bursts of laughter | Frequent (79-30%) |
| HP:0000752 | Hyperactivity | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001852 | Sandal gap | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002230 | Generalized hirsutism | Frequent (79-30%) |
| HP:0002360 | Sleep disturbance | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0002591 | Polyphagia | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0100716 | Self-injurious behavior | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001572 | Macrodontia | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 2 |
| HP:0000252 | Microcephaly | 1 |
| HP:0004322 | Short stature | 1 |