Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin (IDPFH)

Alias:
Dias-Logan Syndrome
Intellectual Developmental Disorder with Hereditary Persistence of Fetal Hemoglobin
Hereditary Persistence of Fetal Hemoglobin-Intellectual Disability Syndrome
Idpfh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin, also known as dias-logan syndrome, is related to bcl11a-related intellectual disability and chromosome 2p16.1-p15 deletion syndrome. An important gene associated with Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin is BCL11A (BCL11 Transcription Factor A). Related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
17
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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