Warburg micro syndrome
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018838
lissencephaly spectrum disorders
is_a
MONDO:0700247
RAB18 deficiency
is_a
WARBM
exact
Warburg micro syndrome
exact
micro syndrome
exact
microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism
related
microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism
related
SPBC651.03c