Hypotonia-cystinuria syndrome

MONDO:0011669

A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

Also known as: HCS, cystinuria with mitochondrial disease, hypotonia-cystinuria syndrome, hypotonia-cystinuria syndrome type 1, hypotonia-cystinuria type 1 syndrome, homozygous 2P16 deletion syndrome, homozygous 2P16 deletion syndrome, formerly, homozygous 2P21 deletion syndrome

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

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Part of

↑ Syndromic disease (7158) ↑ Inborn mitochondrial metabolism disorder (127) ↑ Inborn disorder of amino acid transport (16) ↑ Partial deletion of the short arm of chromosome 2 (0)

Sub-types of Hypotonia-cystinuria syndrome

Atypical hypotonia-cystinuria syndrome 0 trials

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

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