Background Five children from two consanguineous families presented with epilepsy
beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia,
malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous …

Inappropriate stimulation or defective negative regulation of the type I interferon response
can lead to autoinflammation. In genetically uncharacterized cases of the type I …

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal
dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The …

Pitt‐Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo
heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 …

Background SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent
cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural …

Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause
of dysmorphology and mental retardation. To determine whether the clinical cytogenetics …

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals
in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 …

The occurrence of non-epileptic hyperkinetic movements in the context of developmental
epileptic encephalopathies is an increasingly recognized phenomenon. Identification of …