Additional Disease Briefs
Also known as:
DRS1, Robinow dwarfism, Robinow syndrome, autosomal dominant 1, WNT5A autosomal dominant Robinow syndrome, acral dysostosis with Facial and genital abnormalities, autosomal dominant Robinow syndrome caused by mutation in WNT5A, dysostosis acral with facial and genital abnormalities, fetal face syndrome, foetal face syndrome
Also known as:
DRS2, DVL1 autosomal dominant Robinow syndrome, Robinow syndrome, autosomal dominant 2, Robinow syndrome, autosomal dominant type 2, autosomal dominant Robinow syndrome caused by mutation in DVL1, autosomal dominant Robinow syndrome type 2
Also known as:
DRS3, DVL3 Robinow syndrome, Robinow syndrome caused by mutation in DVL3, Robinow syndrome, autosomal dominant 3, Robinow syndrome, autosomal dominant type 3, autosomal dominant Robinow syndrome type 3
Also known as:
ADSA, Adsa, RNF170 hereditary ataxia, SNAX1, ataxia, sensory, 1, autosomal dominant, hereditary ataxia caused by mutation in RNF170
Also known as:
severe congenital neutropenia autosomal dominant, severe congenital neutropenia, autosomal dominant
Also known as:
SIDBA4, anemia, sideroblastic, 4, anemia, sideroblastic, autosomal dominant, sideroblastic anemia, autosomal dominant
Also known as:
SNCV, autosomal dominant slowed nerve conduction velocity, slowed nerve conduction velocity, AD, slowed nerve conduction velocity, autosomal dominant
Also known as:
autosomal dominant spondylocostal dysplasia, spondylocostal dysostosis, autosomal dominant
Also known as:
ADSD, ADSD1, PDE8B striatal degeneration, autosomal dominant, autosomal dominant striatal neurodegeneration, striatal Degeneration, autosomal dominant 1, striatal degeneration, autosomal dominant, striatal degeneration, autosomal dominant 1, striatal degeneration, autosomal dominant caused by mutation in PDE8B
Also known as:
Tricho-odonto-onychodysplasia with syndactyly, Trueb Burg Bottani syndrome, Trueb-Burg-Bottani syndrome, ectodermal dysplasia with corkscrew hairs