Atypical hypotonia-cystinuria syndrome

MONDO:0016539

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

13 clinical trials for this condition and its sub-types, 0 tagged with Atypical hypotonia-cystinuria syndrome itself.

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↑ Hypotonia-cystinuria syndrome (0)

Including sub-types (13) Tagged with Atypical hypotonia-cystinuria syndrome (0)

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