... Developmental delay Neuronal migration disorders Dysmorphology Mitochondrial impairment HERC2 Whole-exome sequencing Established Facts Autosomal recessive intellectual developmental disorder-38 is characterized by prominent central nervous system involvement, including cognitive impairment...

... to in the content or advertisements. 2024 Clinical Genetics Dysmorphology Neurology Prenatal Diagnosis Fetal exome sequencing Established Facts Lateral Meningocele syndrome (also known as Lehman syndrome) is a rare autosomal dominant condition characterized by multiple lateral...

... to in the content or advertisements. 2021 Dysmorphology Exome sequencing Hamamy <italic>IRX5</italic> Neural crest cells (NCCs), a transitory population of multipotent stem cells that arise in the embryonic ectoderm germ layer, are responsible for the development of a variety...

..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Copy number variations Deletion syndrome Dysmorphology FISH Genotype...

... nonsense mutation Dysmorphology Exome sequencing Facial dysmorphology X-linked intellectual disability • Disease-causing mutations in DLG3 have been associated with a moderate to severe nonsyndromic X-linked mental retardation (OMIM 300850). No constant dysmorphic features were noted...

... to in the content or advertisements. Cerebellar ataxia Dysmorphology Whole exome sequencing Syndromic genetic disorders are often clinically heterogeneous and display a wide phenotypic variability. With the advent of next-generation sequencing technologies, it is now possible to identify causal...

... represents a broad phenotypic spectrum with uncertain pathogenesis. Dysmorphology assessment by a clinical geneticist is recommended. SOX9 CNE sequence variants are rare in our cohort and are unlikely to play a significant role in the pathogenesis of PRS-Plus. [email protected] 25 07 2016...

..., instructions or products referred to in the content or advertisements. Bone dysplasia Dysmorphology Malformations Mental retardation SOX9 Campomelic dysplasia (CD) (derived from the Greek for ‘bent limb’) is a rare, often lethal, autosomal dominant osseous malformation syndrome (OMIM 114290...