Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)

active

Code	`1172900005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20210930

Parents (8)

85995004Autosomal recessive hereditary disorder disorder
78689005Chronic brain syndrome disorder
68574006Cortical blindness disorder
363070008Developmental hereditary disorder disorder
224958001Global developmental delay disorder
363235000Hereditary disorder of nervous system disorder
363343008Hereditary disorder of the visual system disorder
1148757008Microcephaly finding

Children (1)

1354858008Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation disorder