Lowry-Wood syndrome
Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
MONDO:0100558
RNU4ATAC spectrum disorder
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
LWS
exact
Lowry Wood syndrome
exact
Lowry-Wood syndrome
exact
epiphyseal dysplasia, microcephaly and nystagmus
related
epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy
exact
epiphyseal dysplasia-microcephaly-nystagmus syndrome
exact