Disease Directory

Holoprosencephaly 2 is a disorder characterized by the incomplete separation of the cerebral hemispheres and is associated with mutations in the SIX3...

Holoprosencephaly 3 is a developmental brain disorder caused by a mutation in the SHH gene. This condition falls under the broader category of holopro...

Holoprosencephaly 4 is a congenital condition affecting brain development, characterized by malformations of the forebrain and midline facial structur...

Holoprosencephaly 6 is a subtype of holoprosencephaly with a material basis in variations affecting the chromosome region 2q37.1-q37.3. This condition...

Holoprosencephaly 7 is a developmental brain malformation caused by a mutation in the PTCH1 gene, which plays a crucial role in embryonic signaling pa...

Holoprosencephaly 8 is a form of holoprosencephaly, a condition characterized by abnormal development of the forebrain, with its material basis linked...

Holoprosencephaly 9 is a developmental condition affecting the brain and facial structures, caused by mutations in the GLI2 gene. It presents with a r...

Holoprosencephaly-radial heart renal anomalies syndrome is an extremely rare, multisystem congenital condition that primarily affects formation of the...

Homocarnosinosis is a metabolic disorder that has been reported in a single family and is characterized by progressive spastic diplegia, intellectual...

Homocystinuria is an inherited metabolic disorder that disrupts methionine metabolism and leads to an abnormal accumulation of homocysteine in the blo...

Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a metabolic disorder that primarily affects the central nervous system, leadi...

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 metabolism that affects multiple systems, including the blood and cent...

Homozygous 11P15-p14 deletion syndrome is a condition that appears to involve abnormalities in several body systems, with features suggested by its sy...