Objective DNAJC6 mutations were recently described in two families with autosomal
recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent …

Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative
disorders that may present as a severe infantile form (ISSD) or a slowly progressive adult …

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles,
cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of …

The "protective protein≓ is a glycoprotein that associates with lysosomal β-galactosidase and
neuraminidase and is deficient in the autosomal recessive disorder galactosialidosis. We …

Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by
genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-…

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal
storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). …

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum
of disorders ascribed to dominant mutations in the gene encoding for type IV collagen …

Objective To report the presence of intracerebral hemorrhage and porencephaly, both present
at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. Methods Two …

We describe a syndrome of primary microcephaly with simplified gyral pattern in combination
with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two …

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic …