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Autosomal recessive frontotemporal pachygyria

MedGen UID:
343995
Concept ID:
C1853215
Disease or Syndrome
Synonym: Pachygyria, frontotemporal
SNOMED CT: Autosomal recessive frontotemporal pachygyria (773394007)
Modes of inheritance:
 
Monarch Initiative: MONDO:0012462
OMIM®: 610279
Orphanet: ORPHA329329

Definition

A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. [from SNOMEDCT_US]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive frontotemporal pachygyria

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