Woolly Hair, Autosomal Recessive 3; Arwh3
Clinical Features
Top most frequent phenotypes and symptoms related to Woolly Hair, Autosomal Recessive 3; Arwh3
- Intellectual disability
- Diarrhea
- Immunodeficiency
- Hyperhidrosis
- Rigidity
- Sparse hair
- Hypotrichosis
- Palmoplantar keratoderma
- Fine hair
- Sparse scalp hair
And another 5 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
Woolly Hair, Autosomal Recessive 3; Arwh3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis.
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.Woolly Hair, Autosomal Recessive 3; Arwh3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
KRT25.
By Fulgent Genetics Fulgent Genetics (United States).
KRT25
Specificity
100 %
Genes
100 % |
HYPOTRICHOSIS SIMPLEX.
By Laboratorio de Genetica Clinica SL (Spain).
RPL21, SNRPE, LPAR6, APCDD1, LIPH, DSG4, KRT71, KRT74, KRT25
Specificity
12 %
Genes
100 % |
Woolly hair.
By Laboratorio de Genetica Clinica SL (Spain).
LPAR6, LIPH, KRT71, KRT74, KRT25
Specificity
20 %
Genes
100 % |
Woolly hair/Hypothricosis Simplex: NGS Panel.
By Laboratorio de Genetica Clinica SL (Spain).
RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, KRT25
Specificity
10 %
Genes
100 % |
You can get up to -4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H FG SYNDROME 2; FGS2 ANTITHROMBIN III DEFICIENCY; AT3D SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2