Rare Disease Index

human disease

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

rare congenital condition where an individual with XX chromosomes is born with a penis and testes

chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males

chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome

gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo

human disease

human disease

genetic condition in which a male has an extra Y chromosome

chromosomal disorder

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.

human disease

viral disease

Human disease

The Yemenite deaf-blind hypopigmentation syndrome, also called Warburg-Thomsen syndrome, is an extremely rare genetic disorder characterized by skin pigmentation abnormalities, eye disorders, and hearing loss.

human disease

human disease

Human disease

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)

Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections

Human disease

medical condition

medical condition

disease

rare disease

group of rare autosomal recessive genetic disorders

congenital disorder of nervous system