ODCs

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4 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Pontocerebellar hypoplasia type 2

Mandibular hypoplasia-deafness-progeroid syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSEN2	(0.63)	POLD1

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 2		Mandibular hypoplasia-deafness-progeroid syndrome
	Synonym(s): - PCH2		Synonym(s): - MDP syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 4 OMIM references - 1 MeSH reference: C548070		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.