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IDPFH
MCID: INT309
MIFTS: 22
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Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin (IDPFH)
Categories:
Blood diseases, Ear diseases, Fetal diseases, Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with Persistence of Fetal...
MalaCards integrated aliases for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset at birth mutations occur de novo variable dysmorphic features HPO:32
intellectual developmental disorder with persistence of fetal hemoglobin:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Anatomical: Ear diseases Blood diseases |
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OMIM
:
57
Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).
Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (612513). (617101)
MalaCards based summary : Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin, also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin, is related to chromosome 2p16.1-p15 deletion syndrome. An important gene associated with Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin is BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A). Related phenotypes are cerebellar atrophy and low-set ears UniProtKB/Swiss-Prot : 74 Intellectual developmental disorder with persistence of fetal hemoglobin: An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. |
Diseases related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:32 (show all 16)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617101 |
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Articles related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:
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Genes related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:6
UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:74
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin.
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