Skeletal Defects, Genital Hypoplasia, And Mental Retardation

Clinical Features

Top most frequent phenotypes and symptoms related to Skeletal Defects, Genital Hypoplasia, And Mental Retardation

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape
  • Cryptorchidism
  • Intellectual disability, severe
  • Delayed skeletal maturation
  • Micropenis
  • Narrow mouth

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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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Skeletal Defects, Genital Hypoplasia, And Mental Retardation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RT-PCR t(11;17).

By CGC Genetics (Portugal).

ZBTB16, RARA
Specificity
50 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)

View the complete list with 367 more genes
Specificity
1 %
Genes
100 %
ZBTB16.

By Fulgent Genetics Fulgent Genetics (United States).

ZBTB16
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 7; SCA7 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY JOUBERT SYNDROME 10; JBTS10 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E

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