24 relations: Ashkenazi Jews, Ataxia, Autism, Base pair, BDH1, Chromosome 3, Deletion (genetics), DLG1, Dysmorphic feature, Genetic disorder, Homology (biology), Intellectual disability, Low copy repeats, Melanotransferrin, Microcephaly, Non-allelic homologous recombination, Nuclear cap-binding protein complex, PAK2, PCYT1A, Phenotype, Philtrum, RING finger domain, Schizophrenia, Transferrin receptor.
Ashkenazi Jews, also known as Ashkenazic Jews or simply Ashkenazim (אַשְׁכְּנַזִּים, Ashkenazi Hebrew pronunciation:, singular:, Modern Hebrew:; also), are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium.
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.
Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
D-beta-hydroxybutyrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the BDH1 gene.
Chromosome 3 is one of the 23 pairs of chromosomes in humans.
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffold protein that in humans is encoded by the SAP97 gene.
A dysmorphic feature is a difference of body structure.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
In biology, homology is the existence of shared ancestry between a pair of structures, or genes, in different taxa.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome.
Melanotransferrin is a protein that in humans is encoded by the MFI2 gene.
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles.
Nuclear cap-binding protein complex is a RNA-binding protein which binds to the 5' cap of pre-mRNA.
Serine/threonine-protein kinase PAK 2 is an enzyme that in humans is encoded by the PAK2 gene.
Choline-phosphate cytidylyltransferase A is an enzyme that in humans is encoded by the PCYT1A gene.
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
The philtrum (philtrum, φίλτρον philtron, lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to many mammals, extending in humans from the nasal septum to the tubercle of the upper lip.
In molecular biology, a RING (Really Interesting New Gene) finger domain is a protein structural domain of zinc finger type which contains a C3HC4 amino acid motif which binds two zinc cations (seven cysteines and one histidine arranged non-consecutively).
Schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand reality.
Transferrin receptor (TfR) is a carrier protein for transferrin.