| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
16179223 |
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. Eur J Med Genet. 2005;48(3):276-89. |
| High palate Micrognathia | ||
| SATB2 | ||
| rs1553496847 rs1553629086 rs1553633403 rs1553635778 rs763828119 rs774316240 rs887985686 | ||
| Adult Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 DNA Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Oligonucleotide Array Sequence Analysis Syndrome | ||
| 1 (60.5%) |
11484197 |
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. Houdayer C, Portnoi MF, Vialard F, Soupre V, Crumiere C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M. Am J Med Genet. 2001;102(3):219-26. |
| Glossoptosis Micrognathia | ||
| Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 2 Females Fluorescent in Situ Hybridization Homo sapiens Infant Pierre Robin Syndrome Short Tandem Repeat | ||
| 3 (39.0%) |
8500259 |
Del(2q)--cause of the wrinkly skin syndrome? Kreuz FR, Wittwer BH. Clin Genet. 1993;43(3):132-8. |
| Microcephaly | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 2 Females Growth Disorders Homo sapiens Infant, Newborn Intellectual Disability Male Skin Skin Abnormalities Syndrome | ||
| 3 (39.0%) |
2918541 |
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E. J Med Genet. 1989;26(2):127-30. |
| Microcephaly | ||
| rs1057518496 rs1057521083 rs1553544102 rs1553547885 rs1553547906 rs1553551705 rs797044874 | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 2 Homo sapiens Intellectual Disability Isocitrate Dehydrogenase (NAD+) Male Microcephaly Pigmentation Disorders | ||
| 5 (4.0%) |
12708586 |
Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3). Gallagher L, Becker K, Kearney G, Dunlop A, Stallings R, Green A, Fitzgerald M, Gill M. J Autism Dev Disord. 2003;33(1):105-8. |
| Autism | ||
| Autistic Disorder Chromosomes, Human, Pair 2 Cytogenetics Gene Deletion Homo sapiens Male Point Mutation |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0002213 | Fine hair | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000444 | Convex nasal ridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000677 | Oligodontia | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000718 | Aggressive behavior | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0001863 | Toe clinodactyly | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002546 | Incomprehensible speech | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0008070 | Sparse hair | Occasional (29-5%) |
| HP:0008734 | Decreased testicular size | Occasional (29-5%) |
| HP:0010059 | Broad hallux phalanx | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
| HP:0100024 | Conspicuously happy disposition | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 1 |
| HP:0000717 | Autism | 1 |