Ankyloblepharon-ectodermal Defects-cleft Lip/palate

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 Ankyloblepharon-ectodermal Defects-cleft Lip/palate

TP63

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Clinical Features

Top most frequent phenotypes and symptoms related to Ankyloblepharon-ectodermal Defects-cleft Lip/palate

Short stature
Hearing impairment
Failure to thrive
Cleft palate
Pain
Feeding difficulties
Wide nasal bridge
Ventricular septal defect
Abnormality of the dentition
Syndactyly

And another 73 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

Ankyloblepharon-ectodermal Defects-cleft Lip/palate Is also known as hay-wells syndrome, aec 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.

Ankyloblepharon-ectodermal Defects-cleft Lip/palate 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 %

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Sources and references

You can check the following sources for additional information.

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