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Start free with Eleplan19p13.12 microdeletion syndrome
ORPHA:254346Malformation syndrome
Also called Del(19)(p13.12) · Monosomy 19p13.12
What it is
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
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
Common30–79%
23- Abnormal pinna morphology
- Anteverted nares
- Arrhythmia
- Atrial septal defect
- Brachycephaly
- Broad forehead
- Clinodactyly of the 5th finger
- Epicanthus
- Hyperactivity
- Hypodontia
- Hypotonia
- Intrauterine growth retardation
- Low-set ears
- Microcephaly
- Narrow nasal bridge
- Scoliosis
- Seizure
- Sensorineural hearing impairment
- Short neck
- Short palm
- Synophrys
- Thin vermilion border
- Ventriculomegaly
These 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.
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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