"GARD:10704"^^ . "pontocerebellar hypoplasia type 1"^^ . "DOID:0112322"^^ . "disease_ontology"^^ . "PCH1"^^ . . "pontocerebellar hypoplasia with anterior horn cell disease"^^ . "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia."^^ . . "ORDO:2254"^^ . "pontocerebellar hypoplasia with infantile spinal muscular atrophy"^^ . . "Norman disease"^^ .