Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 1; Eec1

Table of contents:

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

Genes related to Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 1; Eec1

TP63

Clinical Features

Top most frequent phenotypes and symptoms related to Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 1; Eec1

Intellectual disability
Hearing impairment
Microcephaly
Hypertelorism
Cleft palate
Cryptorchidism
Fever
Malar flattening
Syndactyly
Immunodeficiency

And another 89 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 1; Eec1 Is also known as eec, eec syndrome 1.

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.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 1; Eec1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). TP63 Specificity 100 % Genes 100 %
TP63 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TP63 Specificity 100 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 100 %
TP63. By Institute for Human Genetics University Clinic Freiburg (Germany). TP63 Specificity 100 % Genes 100 %
TP63. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63. Sequencing of the exon 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63. Sequencing of the exons 13 and 14. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). WNT10A, EDARADD, TP63, EDAR, EDA Specificity 20 % Genes 100 %

You can get up to 73 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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