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Metadata
ID	DOID:0112329
Name	pontocerebellar hypoplasia type 2F
Definition	A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/27392077/
Xrefs	MIM:617026
Synonyms	PCH2F [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia type 2 is_a autosomal recessive disease