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chromosome 17p13.1 deletion syndrome
Summary
- Definition
- A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060402
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 250 | ALPP | alkaline phosphatase, placental | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2220 | FCN2 | ficolin 2 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5335 | PLCG1 | phospholipase C gamma 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15485 | Ficolin-2 | |
| Q5VV63 | Attractin-like protein 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9NRA2 | Sialin | |
| Q9P212 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 |
