Sensorineural hearing loss-spastic…

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Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

ORPHA:659975Malformation syndrome

Also called Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome · Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome

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
Inheritance
Autosomal recessive
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.

Gene

AFG2BDisease-causing germline mutation(s)

ICD-10 codes

H91.8filed under a broader ICD-10 category — shared with 2 other rare diseases

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.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0859206MONDO 859206OMIM 619616UMLS C5925134

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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