Lissencephaly syndrome, Norman-Roberts type

General Information (adopted from Orphanet):

Synonyms, Signs: NORMAN-ROBERTS SYNDROME
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LIS2
Microlissencephaly type A
Number of Symptoms 8
OrphanetNr: 89844
OMIM Id: 257320
ICD-10: Q04.3
UMLs: C0796089
MeSH: C537848
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Microlissencephaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000426) Prominent nasal bridge 121 / 7739
3
 (HPO:0000340) Sloping forehead 86 / 7739
4
 (OMIM) Normal chromosomes 5 / 7739
5
 (OMIM) Low sloping forehead 2 / 7739
6
 (HPO:0006818) Type I lissencephaly 1 / 7739
7
 (HPO:0006891) Thick cerebral cortex 2 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dobyns et al. (1984) suggested the designation Norman-Roberts syndrome for a disorder which, like the Miller-Dieker syndrome (247200), is associated with type I lissencephaly but has distinctive associated features. (Type I lissencephaly is characterized by microcephaly and a ...
Molecular genetics OMIM In affected members of 2 consanguineous pedigrees segregating an autosomal recessive form of lissencephaly associated with severe abnormalities of the cerebellum, hippocampus, and brainstem, Hong et al. (2000) identified homozygous mutations in the RELN gene (600514.0001-600514.0002).