Additional Disease Briefs


autosomal dominant primary microcephaly

Also known as: autosomal dominant microcephaly autosomal dominant primary microcephaly microcephaly (disease), autosomal dominant microcephaly autosomal dominant microcephaly with autosomal dominant inheritance microcephaly, autosomal dominant



autosomal dominant progressive external ophthalmoplegia

Also known as: PEOA1 adPEO progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 progressive external ophthalmoplegia, autosomal dominant




autosomal dominant pseudohypoaldosteronism type 1

Also known as: PHA I, autosomal dominant PHA1A autosomal dominant PHA 1 autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1, dominant pseudohypoaldosteronism type i, autosomal dominant pseudohypoaldosteronism, type I, autosomal dominant renal PHA1 renal pseudohypoaldosteronism type 1



autosomal dominant Robinow syndrome 1

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


autosomal dominant Robinow syndrome 2

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


autosomal dominant Robinow syndrome 3

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