Subcortical band heterotopia

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Subcortical band heterotopia

ORPHA:99796Morphological anomaly

Also called Subcortical laminar heterotopia

What it is

A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.

Key facts

Inheritance
Autosomal recessive, Unknown, X-linked recessive
Classified as
Morphological anomaly

Genes

DCXDisease-causing germline mutation(s)
EML1Disease-causing germline mutation(s)
PAFAH1B1Disease-causing somatic mutation(s)

ICD-10 codes

Q04.3filed under a broader ICD-10 category — shared with 75 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.

Cross-references

GARD 1904MONDO 0020491OMIM 300067OMIM 600348OMIM 607432UMLS C1848201

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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