Search for a rare disease
Other search option(s)
Isolated lissencephaly type 1 without known genetic defects
Disease definition
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
ORPHA:1084
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q04.3
- ICD-11: LD20.1
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2004) Italiano (2004) Español (2014) Français (2014) Nederlands (2014)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.