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Start free with EleplanDevelopmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
ORPHA:1617Etiological subtype
Also called Del(2)(q24) · Monosomy 2q24
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable
- Classified as
- Etiological subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
19- Abnormality iris morphology
- Atypical behavior
- Bullet-shaped distal phalanx of the hallux
- Camptodactyly of finger
- Cleft palate
- Downslanted palpebral fissures
- Failure to thrive
- Global developmental delay
- Growth delay
- Hand clenching
- Intellectual disability
- Long fingers
- Neonatal hypotonia
- Posteriorly rotated ears
- Seizure
- Severe global developmental delay
- Short neck
- Small for gestational age
- Toe syndactyly
Common30–79%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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