pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
MONDO:0016113
bulbospinal muscular atrophy
is_a
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH2
exact
progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy
related
SPAPB17E12.07c SPCC613.09 SPBC19C7.07c SPAC959.10