Cockayne syndrome
A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015951
hereditary photodermatosis
excluded_subClassOf
MONDO:0019589
obsolete syndromic genetic hearing loss (obsolete MONDO:0019589)
excluded_subClassOf
MONDO:0020240
obsolete syndromic retinitis pigmentosa (obsolete MONDO:0020240)
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0015333
progeroid syndrome
is_a
MONDO:0021190
DNA repair disease
is_a
dwarfism-retinal atrophy-deafness syndrome
related
progeria-like syndrome
related
progeroid nanism
related
SPBC577.09 SPCP25A2.02c