Norman-Roberts syndrome
Findings
No curated finding names Norman-Roberts syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009760), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients · Congenital onset
- LissencephalyHPOHP:0001339
- 6 of 6 reported patients
- 4-layered lissencephalyHPOHP:0006818
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disability
Show the remaining 31
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MicroretrognathiaHPOHP:0000308
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- Frequent (30% to 79% of cases)
- Profound global developmental delayHPOHP:0012736
- Frequent (30% to 79% of cases)
- Prominent occiputHPOHP:0000269
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RELNHGNC:9957
- Definitive · Illumina · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Norman-Roberts syndrome
- Also called
- lissencephaly 2lissencephaly 2 (Norman-Roberts type)lissencephaly syndrome, Norman-Roberts typeMicrolissencephaly type A