MedGen

Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) is a syndromic phenotype characterized by hematologic abnormalities apparent in infancy. Affected individuals have neutropenia, anemia, and variable thrombocytopenia associated with myelofibrosis on bone marrow biopsy. Additional features include severe neurodevelopmental delay with absent speech and inability to walk, delayed bone age, ocular abnormalities, and dysmorphic facial features. Hematopoietic bone marrow transplantation can restore the hematologic abnormalities (Magoulas et al., 2018). [from OMIM]

Kariminejad-Reversade neurodevelopmental syndrome (KAREVS) is an autosomal recessive developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development. Affected individuals have hypotonia and muscle weakness, as well as dysmorphic facial features. Variable nonspecific brain imaging abnormalities are often present (Paul et al., 2022). [from OMIM]