label: atypical hypotonia-cystinuria syndrome
label_lc: atypical hypotonia-cystinuria syndrome
description: A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).