hypotonia-cystinuria syndrome
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.
MONDO:0015962
inherited renal tubular disease
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0016884
partial deletion of the short arm of chromosome 2
is_a
MONDO:0019216
inborn disorder of amino acid transport
is_a
HCS
exact
cystinuria with mitochondrial disease
exact
homozygous 2P16 deletion syndrome
related
hypotonia-cystinuria syndrome
exact
hypotonia-cystinuria syndrome type 1
exact
hypotonia-cystinuria type 1 syndrome
exact