pontocerebellar hypoplasia type 7
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.
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH7
exact
TOE1 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1
exact
pontocerebellar hypoplasia, type 7
related
pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
exact