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Pontocerebellar hypoplasia type 6

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Pontocerebellar hypoplasia type 1

2 OMIM references -
4 associated genes
9 signs/symptoms

Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia type 1

RARS2	(UniProt - OMIM)		EXOSC3	(UniProt - OMIM)
			RARS2	(UniProt - OMIM)
			TSEN54	(UniProt - OMIM)
			VRK1	(UniProt - OMIM)


COMMON GENES	RARS2

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 6		Pontocerebellar hypoplasia type 1
	Synonym(s): - Fatal infantile encephalopathy with mitochondrial respiratory chain defects - PCH6		Synonym(s): - Norman disease - PCH1

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C548074		External references: 2 OMIM references - 1 MeSH reference: C548069

Pontocerebellar hypoplasia type 1
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hypertonia / spasticity / rigidity / stiffness - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers
Pontocerebellar hypoplasia type 6
(no data available)