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Start free with EleplanSLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633024Clinical subtype
Also called Delpire-McNeill syndrome
What it is
A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- Age of onset
- Adolescent, Childhood, InfancySLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
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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