Acromesomelic Dysplasia, Demirhan Type; Amdd
Clinical Features
Top most frequent phenotypes and symptoms related to Acromesomelic Dysplasia, Demirhan Type; Amdd
- Short stature
- Brachydactyly
- Talipes equinovarus
- Hypogonadism
- Amenorrhea
- Limb undergrowth
- Primary amenorrhea
- Abnormality of the genital system
- Short phalanx of finger
- Short toe
And another 18 symptoms. If you need more information about this disease we can help you.
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
Acromesomelic Dysplasia, Demirhan Type; Amdd Is also known as chondrodysplasia, acromesomelic, with or without genital 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.Acromesomelic Dysplasia, Demirhan Type; Amdd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Arterial Hypertension Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
100 % |
Pulmonary Hypertension Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
BMPR1B, BMPR2, CAV1, ACVRL1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9, RASA1
Specificity
8 %
Genes
100 % |
Pulmonary Hypertension Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
BMPR1B, BMPR2, CAV1, ACVRL1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9, RASA1
Specificity
8 %
Genes
100 % |
Pulmonary Hypertension Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
BMPR1B, BMPR2, CAV1, ACVRL1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9, RASA1
Specificity
8 %
Genes
100 % |
Comprehensive Pulmonary-Vascular Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, ZMYND10 , (...)
View the complete list with 45 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Pulmonary-Vascular Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, EIF2AK4 , (...)
View the complete list with 44 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RPGR, BMPR1B, BMPR2, SFTPB, SLC7A7, SPAG1, TERC, TERT, NKX2-1, RSPH1, CAV1, NME8, LRRC6, ACVRL1, INVS, CCNO, DNAI2, CFTR, HYDIN, EIF2AK4 , (...)
View the complete list with 44 more genes
Specificity
2 %
Genes
100 % |
You can get up to 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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