monogenic disease
Human disease
Cornelia de Lange syndrome
genetic disease
corneal opacification and other ocular anomalies
sclerocornea that has material basis in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis
cataract
clouding of the lens inside the eye, which leads to low vision
Bartter disease
Human disease
amyotrophic lateral sclerosis
rare neurodegenerative disease with amyotrophy and progressive paralysis
fetal akinesia deformation sequence
human disease
primary congenital glaucoma
Human disease
familial nephrotic syndrome
Human disease
multiple pterygium syndrome
Human disease