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Isolated lissencephaly type 1 without known genetic defect

MedGen UID:
895946
Concept ID:
C4275151
Disease or Syndrome
Synonym: Isolated lissencephaly type 1 without known genetic defects
SNOMED CT: Isolated lissencephaly type 1 without known genetic defect (715406003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0015205
Orphanet: ORPHA1084

Definition

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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated lissencephaly type 1 without known genetic defect

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