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CEROID LIPOFUSCINOSIS, NEURONAL, 7

CEROID LIPOFUSCINOSIS, NEURONAL, 7
CLN7;
610951
OMIM = Online Mendelian Inheritance of Men
228366
Major facilitator superfamily domain-containing protein 8
4q28.2
E75.4
rare
autosomal recessive
mutation in the MFSD8 gene
Laboratory findings
Symptoms    ataxia
    behavior, abnormal or bizarre, confusion
    blindness, visual loss, visual impairment
    cerebellar atrophy or hypoplasia
    cerebral atrophy
    developmental regression
    EEG abnormalities [-]
    Electron microscopy [-]
    lethargy, drowsiness, apathy
    MRI, brain, abnormalities [-]
    MRI, brain, white matter abnormalities [-]
    myoclonus
    onset, childhood
    optic atrophy
    retinopathy
    seizures
    speech development, delayed, abnormal
    VEP (visual evoked potentials), abnormal
    white matter changes, abnormalities