3-methylcrotonyl-coa Carboxylase 2 Deficiency; Mcc2d

Clinical Features

Top most frequent phenotypes and symptoms related to 3-methylcrotonyl-coa Carboxylase 2 Deficiency; Mcc2d

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Macrocephaly

And another 34 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

3-methylcrotonyl-coa Carboxylase 2 Deficiency; Mcc2d Is also known as 3-methylcrotonylglycinuria ii, mcc2 deficiency, methylcrotonylglycinuria, type ii.

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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3-methylcrotonyl-coa Carboxylase 2 Deficiency; Mcc2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

MCCC1, MCCC2
Specificity
50 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MCCC1, MCCC2
Specificity
50 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
MCCC1 & MCCC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCCC1, MCCC2
Specificity
50 %
Genes
100 %
MCCC2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCCC2
Specificity
100 %
Genes
100 %
MCCC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCCC2
Specificity
100 %
Genes
100 %
MCCC2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MCCC2
Specificity
100 %
Genes
100 %
MCCC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MCCC2
Specificity
100 %
Genes
100 %

We have 49 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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