has material basis in germline mutation in PCLO pontocerebellar hypoplasia type 3 https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 https://www.malacards.org/card/pontocerebellar_hypoplasia_type_3_2 pontocerebellar hypoplasia, type 3 MONDO:0011948 cerebellar atrophy with progressive microcephaly PCLO non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO MEDGEN:334225 PCH without dyskinesia SCTID:718609003 MESH:C548072 clam PCH3 GARD:0010708 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. UMLS:C1842687 OMIM:608027 DOID:0060272 PCH with optic atrophy icd11.foundation:378477807 Orphanet:97249 pontocerebellar hypoplasia