CADDS
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
MONDO:0002254
syndromic disease
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0019053
peroxisomal disease
is_a
CADDS
exact
Zellweger-like contiguous gene deletion syndrome
exact
contiguous ABCD1 DXS1357E deletion syndrome
exact