Details of Disease | DrugMAP

General Information of Disease (ID: DISUXOK0)

Disease Name	Norman-Roberts syndrome
Synonyms	lissencephaly syndrome Norman-Roberts type; LIS2; Norman Roberts lissencephaly syndrome; lissencephaly 2 (Norman-Roberts type); Microlissencephaly type A; lissencephaly syndrome, Norman-Roberts type; lissencephaly 2; Norman-Roberts syndrome
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.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1GZDX: Neurovascular disorder DISUCKNT: Microlissencephaly DIS4D8VL: Lymphatic malformation DISUXOK0: Norman-Roberts syndrome
Disease Identifiers	MONDO ID MONDO_0009760 MESH ID C537848 UMLS CUI C0796089 OMIM ID 257320 MedGen ID 163213 Orphanet ID 89844 SNOMED CT ID 717977003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBGCP2	OTQMMVJB	Strong	Autosomal recessive	[1]
RELN	OTLKMW1O	Definitive	Autosomal recessive	[2]
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References

1	Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.