PCH2 is caused by changes (mutations ) in the TSEN54, TSEN2, TSEN34, or SEPSECSgene and is inherited in an autosomal recessive manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1] Last updated: 1/11/2016 [rarediseases.info.nih.gov]

Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family. [ncbi.nlm.nih.gov]

The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [medlineplus.gov]

• Round Face

  Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla, in the older patients. [en.wikipedia.org]

• Global Developmental Delay

  Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). [ncbi.nlm.nih.gov]

  seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in a handful of cases.[8] CLAM-PCH, cerebellar atrophy with progressive microcephaly PCH4 [en.wikipedia.org]

PCH2 is caused by changes (mutations ) in the TSEN54, TSEN2, TSEN34, or SEPSECSgene and is inherited in an autosomal recessive manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1] Last updated: 1/11/2016 [rarediseases.info.nih.gov]

Another gene that has been associated with this condition is coenzyme A synthase (COASY).[14] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]