Table 2.

PNPLA6 Disorders: Comparison of Phenotypic Clusters by Select Features

Phenotypic FeaturePNPLA6 Disorder
BNSGHSOMCSLMSSPG39
Cerebellar ataxia+++±
Peripheral neuropathy+
Spasticity+++
Cognitive dysfunction±
Chorioretinal dystrophy+++
Hypogonadotropic hypogonadism++
Congenital/childhood anterior hypopituitarism++
Trichomegaly+

BNS = Boucher-Neuhäuser syndrome; GHS = PNPLA6 Gordon Holmes syndrome; LMS = PNPLA6 Laurence-Moon syndrome; OMCS = Oliver-McFarlane syndrome; SPG39 = spastic paraplegia type 39

Note: The clusters in this table do not constitute distinct phenotypes, as they may overlap in many affected individuals.

From: PNPLA6 Disorders

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