Zellweger spectrum disorders
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019234
peroxisome biogenesis disorder
is_a
ZS
exact
ZWS
exact
Zellweger leukodystrophy
related
Zellweger spectrum disorders
exact
Zellweger syndrome
exact
cerebrohepatorenal syndrome
exact
SPAC17A5.01 SPAC17D4.01 SPAC1F12.04c SPCC16C4.04 SPAC17C9.14 SPAC29A4.14c SPBC725.07 SPCC553.03 SPBC582.09 SPBC17A3.10 SPAPB17E12.03 SPBC13G1.03c SPAC3C7.10 SPBC646.15c