Hypotrichosis 12; Hypt12

Clinical Features

Phenotypes and symptoms related to Hypotrichosis 12; Hypt12

  • Intellectual disability
  • Alopecia
  • Hyperhidrosis
  • Abnormality of the nervous system
  • Hypotrichosis
  • Aplasia/Hypoplasia of the eyebrow
  • Dry hair
  • Slow-growing hair
  • Sparse or absent eyelashes

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.

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.

Hypotrichosis 12; Hypt12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis NGS panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis type 12.

By Centogene AG - the Rare Disease Company (Germany).

RPL21
Specificity
100 %
Genes
100 %
Nonsyndromic hypotrichosis panel.

By Centogene AG - the Rare Disease Company (Germany).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
RPL21.

By Fulgent Genetics Fulgent Genetics (United States).

RPL21
Specificity
100 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37 GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR DYSTONIA 11, MYOCLONIC; DYT11 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8