Lissencephaly syndrome

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Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844Clinical subtype

Also called Microlissencephaly type A

What it is

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Signs and symptoms

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.

Genes

KATNB1Disease-causing germline mutation(s)
NDE1Disease-causing germline mutation(s)
RELNDisease-causing germline 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

MESH C537848MONDO 0009760OMIM 257320UMLS C0796089

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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