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Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

MedGen UID:
1002391
•Concept ID:
CN322789
•
Disease or Syndrome
Synonyms: Dias-Logan syndrome; hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0850059
Orphanet: ORPHA619233

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary persistence of fetal hemoglobin-intellectual disability syndrome

Professional guidelines

PubMed

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W
Arch Ophthalmol 2007 Feb;125(2):225-30. doi: 10.1001/archopht.125.2.225. PMID: 17296899

Recent clinical studies

Etiology

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W
Arch Ophthalmol 2007 Feb;125(2):225-30. doi: 10.1001/archopht.125.2.225. PMID: 17296899

Diagnosis

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W
Arch Ophthalmol 2007 Feb;125(2):225-30. doi: 10.1001/archopht.125.2.225. PMID: 17296899

Supplemental Content

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