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Lissencephaly type 3-familial fetal akinesia sequence syndrome

MedGen UID:
930924
•Concept ID:
C4305255
•
Disease or Syndrome
Synonyms: Lissencephaly type 3 familial fetal akinesia sequence syndrome; lissencephaly type 3-familial fetal akinesia sequence syndrome
SNOMED CT: Lissencephaly type 3 familial fetal akinesia sequence syndrome (718719001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019449
Orphanet: ORPHA86821

Definition

This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLissencephaly type 3-familial fetal akinesia sequence syndrome

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