Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin

Description

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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears
  • Delayed speech and language development
  • Epicanthus
  • Downslanted palpebral fissures
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin Is also known as dias-logan syndrome, intellectual developmental disorder with hereditary persistence of fetal hemoglobin.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dias-Logan Syndrome via BCL11A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCL11A
Specificity
100 %
Genes
100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %
BCL11A.

By Fulgent Genetics Fulgent Genetics (United States).

BCL11A
Specificity
100 %
Genes
100 %
Onco microarray for CLL.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BCL6, TP53, BCL11A, CCND1, FGF2, AKT1, ALK, IGH, ITK, MYB, MYBL1, MYC, ATM, BCL10, BCL3
Specificity
7 %
Genes
100 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics (Finland).

RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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