7/1/23, 12:43 AM Microcephaly Pathway Feedback Search Clinical Topics Home Findings Microcephaly Microcephaly More common causes Malaria infection Chickenpox Traumatic brain injury Congenital toxoplasmosis Less common causes Holoprosencephaly Fanconi's anemia Type 1 primary autosomal recessive microcephaly Congenital rubella Diamond-Blackfan anemia Incontinentia pigmenti Methylenetetrahydrofolate reductase deficiency Glucose transporter type 1 deficiency Pelizaeus-Merzbacher disease Pyruvate dehydrogenase deficiency Fumarate hydratase deficiency Prenatal infections https://web.pathway.md/findings/recgxcDX79XZOTlfL 1/3 7/1/23, 12:43 AM Microcephaly Pathway Uncommon causes Mevalonate kinase deficiency Leukotriene C4 synthase deficiency Corpus callosum hypoplasia Microcephaly / seizures and developmental delay Asparagine synthetase deficiency Adenylosuccinate lyase deficiency Ceroid lipofuscinosis neuronal 10 Pontocerebellar hypoplasia type 1 Combined oxidative phosphorylation deficiency 1 Combined malonic and methylmalonic aciduria Pontocerebellar hypoplasia type 2a Smith-McCort dysplasia Amish lethal microcephaly Phosphoglycerate dehydrogenase deficiency Congenital disorder of glycosylation type 1k Dyggve-Melchior-Clausen dysplasia Phosphoserine aminotransferase deficiency Type 2 microcephalic osteodysplastic primordial dwarfism Phosphoethanolaminuria 3-hydroxyisobutyric aciduria RNAse T2-deficient leukoencephalopathy Infantile ceroid lipofuscinosis neuronal 1 Acrofacial dysostosis / Richieri Costa Guion-Almeida type Lathosterolosis https://web.pathway.md/findings/recgxcDX79XZOTlfL 2/3 7/1/23, 12:43 AM Microcephaly Pathway https://web.pathway.md/findings/recgxcDX79XZOTlfL 3/3