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Kleefstra syndrome due to 9q34 microdeletion
ORPHA:96147
Classification level: Subtype of disorder- Synonym(s):
- 9q subtelomeric deletion syndrome
- 9qSTDS
- Kleefstra syndrome due to 9q subtelomeric deletion
- Kleefstra syndrome due to del(9)(q34)
- Kleefstra syndrome due to monosomy 9q34
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- ICD-11: LD2F.1Y
- OMIM: 610253
- UMLS: C0795833
- MeSH: -
- GARD: -
- MedDRA: -
Summary
This disease is described under Kleefstra syndrome
Detailed information
General public
- Article for general public
- English (2009, pdf) - Unique
- Español (2009, pdf) - Unique
- Nederlands (2009, pdf) - Unique
- Russian (2009, pdf) - Unique
- Russian (2009, pdf) - Unique
- English (2016, pdf) - Unique
- Español (2022) - Asociación Nacional de Personas con Epilepsia-ANPE
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- English (2019) - Orphananesthesia
Disease review articles
- Clinical genetics review
- English (2023) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.