de Barsy syndrome
A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
MONDO:0016133
obsolete rare hereditary metabolic disease with peripheral neuropathy (obsolete MONDO:0016133)
excluded_subClassOf
MONDO:0016175
cutis laxa
excluded_subClassOf
MONDO:0017355
inborn disorder of proline metabolism
excluded_subClassOf
MONDO:0019058
obsolete neurometabolic disease (obsolete MONDO:0019058)
excluded_subClassOf
MONDO:0020215
obsolete syndromic corneal dystrophy (obsolete MONDO:0020215)
excluded_subClassOf
MONDO:0020228
obsolete cataract associated with a metabolic disease (obsolete MONDO:0020228)
excluded_subClassOf
MONDO:0020280
obsolete metabolic disease with cataract (obsolete MONDO:0020280)
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019303
premature aging syndrome
is_a
De Barsy syndrome
exact
corneal clouding, cutis laxa and intellectual disability
related
corneal clouding, cutis laxa and mental retardation
related
cutis laxa growth deficiency syndrome
related
cutis laxa-corneal clouding-intellectual disability syndrome
exact
progeroid syndrome of de Barsy
related
progeroid syndrome, De Barsy type
exact
progeroid syndrome, de Barsy type
related
SPAC17H9.13c SPAC821.11 SPAPYUG7.05