progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
SCBMS
exact
seizures, cortical blindness, microcephaly syndrome
exact
SPAC1F5.04c SPAC20G4.02c