pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH4
exact
encephalopathy fatal infantile with olivopontocerebellar hypoplasia
related
fatal infantile encephalopathy with olivopontocerebellar hypoplasia
exact
olivopontocerebellar hypoplasia
exact
pontocerebellar hypoplasia, type 4
related
SPCC613.09