has material basis in germline mutation in TOE1 pontocerebellar hypoplasia type 7 https://www.malacards.org/card/pontocerebellar_hypoplasia_type_7_2 PCH7 Orphanet:284339 UMLS:C3554226 OMIM:614969 DOID:0060276 pontocerebellar hypoplasia-46,XY disorder of sex development syndrome MONDO:0013993 GARD:0017315 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1 pontocerebellar hypoplasia, type 7 MEDGEN:767140 TOE1 non-syndromic pontocerebellar hypoplasia SCTID:718605009 pontocerebellar hypoplasia