Hogue-Janssens syndrome 1 is an autosomal dominant intellectual developmental disorder. It is caused by a mutation in the PPP2R5D gene, which plays a...

Holmes-Adie syndrome is a rare condition that is mainly known for an unusually dilated pupil and reduced reflexes. It is also associated with abnormal...

Holoprosencephaly is a congenital brain malformation marked by incomplete separation of the forebrain and is frequently associated with midline facial...

Holoprosencephaly 1 is a severe congenital brain malformation characterized by the complete absence of midline forebrain division, resulting in fused...

Holoprosencephaly 12 with or without pancreatic agenesis is a complex developmental condition that affects both the brain and the pancreas. It is char...

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 5 is a congenital brain malformation disorder that primarily affects the development of the forebrain and associated structures. It...

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-caudal dysgenesis syndrome is a complex central nervous system malformation that affects brain development and the formation of faci...