Hao-Fountain syndrome is a rare genetic disorder that affects development. People with this condition experience global developmental delays, intellec...

Hao-Fountain syndrome due to 16p13.2 microdeletion is a rare condition that occurs due to a partial deletion of the short arm of chromosome 16. This g...

Hao-Fountain syndrome due to USP7 mutation, also known as USP7-related neurodevelopmental disorder, is a rare condition linked to changes in the USP7...

Happle-Tinschert syndrome (HTS) is a rare multisystem disorder. It is most visibly marked by areas of lighter and darker skin that follow specific pat...

Harderoporphyria is an extremely rare metabolic condition characterized by abnormal porphyrin metabolism, with biochemical markers that include elevat...

Harel-Yoon syndrome is a neurodevelopmental disorder that affects several aspects of development. It is characterized by delayed psychomotor developme...

Harlequin syndrome is an autonomic disorder characterized by a distinctive pattern of unilateral flushing and sweating that primarily affects the face...

Harrod syndrome is a rare condition that affects several parts of the body. It is noted for its combination of intellectual deficits, distinctive faci...

Hartnup disease is a rare metabolic disorder that affects how the body processes certain neutral amino acids. In this condition, the kidneys and gastr...

Information about overview is currently limited for this condition.

Hashimoto-Pritzker syndrome, also known as congenital Langerhans cell histiocytosis, is a rare variant of Langerhans cell histiocytosis. People with t...

HAVCR2-related cancer predisposition is a hereditary condition caused by changes in the HAVCR2 gene. People with this condition have a higher chance o...

Hawkinsinuria is an inborn error of tyrosine metabolism that is very rare and typically identified in early childhood. It results from changes in the...

HBA1; HBA2-related digenic alpha thalassemia spectrum is a condition that causes mild microcytic anemia. This condition occurs because of variations i...

HBA1-related alpha thalassemia spectrum, also known as alpha-thalassemia trait, is a condition caused by changes in the HBA1 gene. These genetic chang...

HBA2-related alpha thalassemia spectrum is a condition that leads to mild microcytic anemia. This means that the red blood cells are smaller than usua...

Hb Bart's hydrops fetalis is a rare and severe blood disorder that occurs when variations affect all four copies of the alpha hemoglobin genes, specif...

Head and neck paraganglioma is a tumor that arises from clusters of neuroendocrine cells located in the extra-adrenal paraganglia of the head and neck...