2q23.1 microdeletion syndrome
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
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Summary
2q23.1 microdeletion syndrome is a class of disease[1].
Key Facts
- 2q23.1 microdeletion syndrome's instance of is recorded as class of disease[2].
- 2q23.1 microdeletion syndrome's subclass of is recorded as chromosome 2q deletion[3].
- 2q23.1 microdeletion syndrome's Orphanet ID is recorded as 228402[4].
- 2q23.1 microdeletion syndrome's genetic association is recorded as MBD5[5].
- 2q23.1 microdeletion syndrome's Google Knowledge Graph ID is recorded as /g/11h4lhx6lt[6].
- 2q23.1 microdeletion syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_228402[7].
- 2q23.1 microdeletion syndrome's UMLS CUI is recorded as C4304532[8].
- 2q23.1 microdeletion syndrome's ICD-10-CM is recorded as Q93.5[9].
- 2q23.1 microdeletion syndrome's GARD rare disease ID is recorded as 10998[10].
- 2q23.1 microdeletion syndrome's Mondo ID is recorded as MONDO_0016459[11].