atypical hypotonia-cystinuria syndrome
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).
MONDO:0011669
hypotonia-cystinuria syndrome
is_a
atypical HCS
exact