Atypical hypotonia-cystinuria syndrome
Atypical hypotonia-cystinuria syndrome
Definition
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).
Also known as atypical HCS — per MONDO