Gorlin-chaudhry-moss Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

Genes related to Gorlin-chaudhry-moss Syndrome

SLC25A24

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Clinical Features

Top most frequent phenotypes and symptoms related to Gorlin-chaudhry-moss Syndrome

Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly
Scoliosis
Growth delay
Hypertelorism
Nystagmus
Failure to thrive

And another 116 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset, congenital onset, congenital onset, congenital onset, and congenital onset .

Alternative names

Gorlin-chaudhry-moss Syndrome Is also known as gcm syndrome, gorlin-chaudhry-moss syndrome, craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, craniofacial dysostosis-genital, dental, cardiac anomalies 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.

Gorlin-chaudhry-moss Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniosynostosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...) View the complete list with 6 more genes Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
Craniosynostosis Comprehensive panel. By Connective Tissue Gene Tests (United States). SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...) View the complete list with 6 more genes Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
Craniosynostosis NGS panel. By Connective Tissue Gene Tests (United States). SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...) View the complete list with 6 more genes Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
Progeroid syndromes and related disorders NGS panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %
Progeroid syndromes and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %
Progeroid syndromes and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...) View the complete list with 1 more genes Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 Specificity 5 % Genes 100 %
SLC25A24. By Fulgent Genetics Fulgent Genetics (United States). SLC25A24 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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