Available records did not make any note of nonocular manifestations of mild HGSNAT deficiency, such as “coarse facial features, hypertrichosis, contractures, organomegaly, hearing impairment, behavioral and sleeping problems, recurrent infections, diarrhea [mdpi.com]

deterioration.” [44], p. 3745. [mdpi.com]

[…] achromatopsia 4 Achromatopsia 5 Acrootoocular Syndrome Aicardi syndrome Alacrima Albinism angioid streaks of choroid aniridia ataxia with oculomotor apraxia type 3 Ataxia-Microcephaly-Cataract Syndrome Ataxia-Oculomotor Apraxia 4 basal laminar drusen [rgd.mcw.edu]

Muscles, 2 Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement Congenital Fibrosis of Extraocular Muscles, 3B Congenital Fibrosis of Extraocular Muscles, 3C Congenital Fibrosis of Extraocular Muscles, 5 Congenital Mydriasis [rgd.mcw.edu]

paraplegia 15 high hyperopia High Myopia with Cataract and Vitreoretinal Degeneration Histiocytic Dermatoarthritis Hyaloideoretinal Degeneration of Wagner infantile cerebellar-retinal degeneration Iris Pigment Epithelium Anomalies Joubert syndrome 4 [rgd.mcw.edu]