occipital horn syndrome
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017762
disorder of copper metabolism
is_a
MONDO:0100237
inherited cutis laxa
is_a
EDS IX (formerly)
related
EDS9
related
Ehlers-Danlos syndrome, occipital horn type
related
Ehlers-Danlos syndrome, occipital horn type (formerly)
related
OHS
related
cutis laxa X-linked
related
cutis laxa, X-linked
related
occipital horn syndrome
exact
occipital horn syndrome, X-linked recessive
exact
SPBC29A3.01