A 4-year-old female with symptoms of severe psychomotor retardation associated with microcephaly, important generalised hypotonia, muscle hypotrophy, contractions in the four limbs, absence of stretch reflex and epilepsy with onset in the neonatal period [pesquisa.bvsalud.org]

[…] neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 PCH2D 613811 SEPSECS 4p15.2 Progressive cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [en.wikipedia.org]

Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. [ghr.nlm.nih.gov]

All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. [ghr.nlm.nih.gov]

Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). [ghr.nlm.nih.gov]

[12] PCH10 615803 CLP1 11q12.1 Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination[13] Pontine and cerebellar hypoplasia is also observed in [en.wikipedia.org]

Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. [ghr.nlm.nih.gov]

Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. [ghr.nlm.nih.gov]

Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. [ghr.nlm.nih.gov]