ODCs

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2 OMIM references -
4 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
10 signs/symptoms

Pontocerebellar hypoplasia type 1

Papilloma of choroid plexus


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VRK1	(0.89)	TP53

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 1		Papilloma of choroid plexus
	Synonym(s): - Norman disease - PCH1		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

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

	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: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: C548069		External references: 1 OMIM reference - 1 MeSH reference: D020288


COMMON SIGNS	- Autosomal recessive inheritance - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus

Pontocerebellar hypoplasia type 1		Papilloma of choroid plexus
	Very frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Stillbirth / neonatal death Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers		Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors