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Lissencephaly syndrome, Norman-Roberts type is characterized 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.
Features include always present findings: Low muscle tone (hypotonia), Global developmental delay, and Lissencephaly; and very common findings: 4-layered lissencephaly, Hypertelorism, Intellectual disability, and Abnormal facial shape and others. 45 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Generalized-onset seizure, Global developmental delay, Thick cerebral cortex |
RELN function has not been fully characterized.
Norman-Roberts syndrome is associated with mutations in the RELN gene on chromosome 7.
Genetic testing for RELN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 6 very common features, 15 common features.
Estimated prevalence: Unknown (Unknown prevalence).
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Norman-Roberts syndrome
Head and neck | 3 | Microcephaly, Abnormal facial shape, Primary microcephaly |
Muscles | 3 | Low muscle tone (hypotonia), Abnormal muscle tone, Shrinkage of the cerebellum (cerebellar atrophy) |
Digestive system | 3 | Feeding difficulties, Difficulty swallowing (dysphagia), Hypoplastic spleen |
Skin | 1 | Lymphedema |
Growth and development | 1 | Intrauterine growth retardation |
Eyes | 1 | Abnormal retinal morphology |
Heart and blood vessels | 1 | Atrial septal defect |
Arms and legs | 1 | Rocker bottom foot |
Lungs and breathing | 1 | Respiratory distress |
Age of onset: at birth.