Cleft Palate, Cardiac Defects, And Mental Retardation; Cpcmr

Clinical Features

Top most frequent phenotypes and symptoms related to Cleft Palate, Cardiac Defects, And Mental Retardation; Cpcmr

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Feeding difficulties
  • Motor delay
  • Abnormality of the skeletal system

And another 35 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

Cleft Palate, Cardiac Defects, And Mental Retardation; Cpcmr Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies.

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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Cleft Palate, Cardiac Defects, And Mental Retardation; Cpcmr Recommended genes panels

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

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae (United States).

RIT1, RPGR, BRAF, SOS1, SPAG1, TBX1, TBX5, RSPH1, ZIC3, CFAP298, NEK8, NSD1, ACTC1, CBL, SHOC2, NME8, LRRC6, ZNF423, ACVR2B, INVS , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Congenital Heart Disease Panel.

By Invitae (United States).

RIT1, BRAF, SOS1, TBX1, TBX5, ZIC3, NSD1, ACTC1, CRELD1, CBL, SHOC2, ZFPM2, ACVR2B, CHD7, BCOR, MED13L, NKX2-5, LEFTY2, NKX2-6, ELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
MEIS2.

By Fulgent Genetics Fulgent Genetics (United States).

MEIS2
Specificity
100 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %

We have -3 more panels available in our App

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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 NEU-LAXOVA SYNDROME 2; NLS2 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK KAHRIZI SYNDROME; KHRZ MYOPATHY, MYOFIBRILLAR, 4; MFM4 GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY ANGELMAN SYNDROME; AS 1Q44 MICRODELETION SYNDROME

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