Mental Retardation, Autosomal Recessive 38; Mrt38

Description

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 38; Mrt38

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Mandibular prognathia
  • Hyperactivity
  • Aggressive behavior
  • Unsteady gait
  • Poor speech
And another 7 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.


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Mental Retardation, Autosomal Recessive 38; Mrt38 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Angelman Syndrome and Differential Diagnoses.

By MGZ Medical Genetics Center in Germany.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SYNGAP1, MBD5, NEXMIF, NRXN1, DYRK1A, TCF4, CNTNAP2, ATRX, KDM5C, ZEB2, EHMT1, HERC2
Specificity
5 %
Genes
100 %
HERC2 (NGS sequencing).

By Centogene AG - the Rare Disease Company in Germany.

HERC2
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Rett, Syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

UBE3A, MECP2, STXBP1, ALDH5A1, ARX, CDKL5, FOXG1, MEF2C, PLP1, SCN2A, KCNQ2, TCF4, SHANK3, NTNG1, FOXP2, FOXP1, BDNF, HERC2
Specificity
6 %
Genes
100 %
HERC2.

By Fulgent Genetics Fulgent Genetics in United States.

HERC2
Specificity
100 %
Genes
100 %
Prader-Willi syndrome.

By Bioarray in Spain.

HERC2
Specificity
100 %
Genes
100 %
HERC2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HERC2
Specificity
100 %
Genes
100 %
HERC2 Defect Syndrome Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HERC2
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

UBE3A, MECP2, STXBP1, ALDH5A1, ARX, CDKL5, FOXG1, MEF2C, PLP1, SCN2A, KCNQ2, TCF4, SHANK3, NTNG1, FOXP2, FOXP1, BDNF, HERC2
Specificity
6 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, STXBP1, TUSC3, ACSL4, SLC6A8, ARX, MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, PQBP1, TBL1XR1, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, TUSC3, ST3GAL3, NRXN1, CNTNAP2, NSUN2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, VLDLR, TTI2, TAF2, NDST1, WASHC4, FMN2, CRADD, ANK3, TECR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

Alternate names

Mental Retardation, Autosomal Recessive 38; Mrt38 Is also known as ;developmental delay with asd and gait instability.



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