Mulibrey Nanism

Description

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Mulibrey Nanism

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Strabismus
  • Abnormal facial shape
  • Muscular hypotonia

And another 68 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.

Alternative names

Mulibrey Nanism Is also known as mulibrey dwarfism, pericardial constriction and growth failure, muscle-liver-brain-eye nanism, perheentupa syndrome, pericardial constriction-growth failure syndrome.

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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Mulibrey Nanism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mulibrey Nanism.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TRIM37
Specificity
100 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Mulibrey nanism (sequence analysis of TRIM37 gene).

By CGC Genetics (Portugal).

TRIM37
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Mulibrey nanism (sequence analysis of TRIM37 gene).

By CGC Genetics (Portugal).

TRIM37
Specificity
100 %
Genes
100 %
Mulibrey nanism.

By Laboratory of Genetics BioTe21 Adam Master (Poland).

TRIM37
Specificity
100 %
Genes
100 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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