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

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder)

active

Code	`1354858008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20250101

Synonyms

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome with combined immunodeficiency due to diaphanous related formin 1 mutation
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 deficiency
SCBMS (seizures, cortical blindness, microcephaly syndrome) with combined immunodeficiency due to DIAPH1 mutation

Parents (4)

413834006Chronic disease of immune function disorder
442459007Combined immunodeficiency disease disorder
363138005Hereditary disorder of immune system disorder
1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome disorder

Children (0)

None (leaf concept).