Intellectual Disability-developmental Delay-contractures Syndrome

Description

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Disability-developmental Delay-contractures Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia
  • Strabismus
  • Muscle weakness

And another 74 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Intellectual Disability-developmental Delay-contractures Syndrome Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, foot contractures-muscle atrophy-oculomotor apraxia syndrome, wieacker-wolff syndrome, mrxs4, apraxia, oculomotor, with congenital contractures and muscle atrophy, mcs, miles-carpen.

Researches and researchers

Doctors, researchs, and experts related to Intellectual Disability-developmental Delay-contractures Syndrome extracted from public data.

Intellectual Disability-developmental Delay-contractures Syndrome Experts map



Current Researchs and researchers

  • ILLKIRCH-GRAFFENSTADEN — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • STRASBOURG — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


Intellectual Disability-developmental Delay-contractures Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
ZC4H2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ZC4H2
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Wieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZC4H2
Specificity
100 %
Genes
100 %

You can get up to 10 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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