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Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

MedGen UID:
928199
•Concept ID:
C4302530
•
Disease or Syndrome
Synonyms: Da Silva syndrome; intellectual disability - hypoplastic corpus callosum - preauricular tag; Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome; intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
SNOMED CT: Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (722455002); Da Silva syndrome (722455002)
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:0015458
Orphanet: ORPHA1495

Definition

This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

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