Glossary A2BP1 ataxin 2-binding protein 1 (605104); 16p13 ABAT 4-(gamma)-aminobutyrate transferase (137150); 16p13.3 ABCA5 ATP-binding cassette, subfamily A, member 5 (612503); 17q24.3 ABCD1 ATP-binding cassette, subfamily D, member 1 (300371):Xq28 ABR active BCR-related gene (600365); 17p13.3 ACR acrosin (102480); 22q13.33 ACTB actin, beta (102630); 7p22.1 ADHD attention deficit hyperactivity disorder—three separate conditions ADD, ADHD, HD that manifest as poor focus with or without uncontrolled, inap- propriately busy behavior, diagnosed by observation and quantitative scores from parent and teacher questionnaires ADSL adenylosuccinate lyase (608222); 22q13.1 AGL amylo-1,6-glucosidase (610860); 1p21.2 AGO1 (EIF2C1), AGO3 (EIF2C3) argonaute 1 (EIF2C1, eukaryotic translation initiation factor 2C, subunit 1 (606228); 1p34.3, argonaute 3 (factor 2C, subunit 3—607355):1p34.3 AKAP8, AKAP8L A-kinase anchor protein (604692); 19p13.12, A-kinase anchor protein 8-like (609475); 19p13.12 ALG6 S. cerevisiae homologue of, mutations cause congenital disorder of glyco- sylation (604566); 1p31.3 Alopecia absence of hair ALX4 aristaless-like 4, mouse homolog of (605420); 11p11.2 As elsewhere in this book, 6-digit numbers in parentheses direct the reader to gene or disease descriptions in the Online Mendelian Disease in Man database (www.omim.org) © Springer Nature Singapore Pte Ltd. 2017 461 H.E. Wyandt et al., Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis, DOI 10.1007/978-981-10-3035-2 462 Glossary GRIA1 glutamate receptor, ionotropic, AMP1 (138248); 5q33.2 ANKRD11 ankyrin repeat domain-containing protein 11 (611192); 16q24.3 Anomaly deviation from the expected or average type in structure, form and/or function which is interpreted as abnormal APBA2 amyloid beta A4 precursor protein-binding, family A (602712); 15q13.1 APC adenomatous polyposis coli (611731); 5q21q22 AQP4 aquaporin 4; 18q11.2q12.1 Arachnodactyly long (spider) fingers ARFRP1 ADP-ribosylation factor-related protein 1 (604699); 20q13.3 ARHGAP4 rho GTPase-activating protein 4 (300023); Xq28 ARHGEF7 rho guanine nucleotide exchange factor 7 (605477); 13q34 ARID1B AT-rich interaction domain-containing protein 1B (614556); 6q25.3 ARRDC3 arrestin domain-containing 3 (612464); 5q14.3 ARSE arylsulfatase E (300180); Xp22 ARSK arylsulfatase K (610011); 5q13 ARX aristaless-related homeobox, X-linked (300382); Xp22.13 Association Groups of anomalies that occur together more often than by chance, lacking hierarchical frequencies and characteristic facial appearance of malfor- mation syndromes ASXL1 additional sex combs-like 1 (612990); 20q11.21 AUTS14B autism susceptibility locus 14B (614671) Ataxia abnormally coordinated movements including clumsy gait as if intoxicated ATP2C2 ATPase, Ca(2+)-transporting, type 2C, member 2 (613082); 16q24.1 ATR ataxia-telangiectasia and RAD3-related (601215): 3q23 Auditory processing disorder normal hearing with delay in interpreting language Autism, autism spectrum disorder triad of poor socialization, poor communi- cation, and restricted interests/obsessive focus AVPR1A, AVPR2 arginine vasopressin receptor 1A (600821); 12q14.2, receptor 2 (300538); Xq28 B3GALTL beta-glucosyltransferase (610308); 13q12.3 BCAP1 B-cell receptor-associated protein 31 (300398); Xq28 BCL11A B-cell CLL/lymphoma 11A(606557); 2p16.1 Glossary 463 BDNF brain-derived neurotropic factor (115505); 11p13 BHLHA9 basic helix-loop-helix family, member A9 (615416): 17p13.3 Bicornuate, didelphic uterus uterus divided into two upper lobes, often with septum Bifid uvula bifurcation of midline fleshy lobule behind palate Bitemporal narrowing or hollowing concavity at temples when viewed frontally, often seen with severe hypotonia Blepharophimosis increased flesh around eyes making the palpebral fissures look narrow BMP2 bone morphogenetic protein 2 (112261); 20p12.3 BMPR1A bone morphogenetic protein receptor, type 1A (601299); 10q23.2 Bone age, delayed or advanced Age estimated from skeletal x-rays based on schedule of bone epiphysis closure, behind or ahead of chronologic age Brachycephaly flat occiput, opposite of dolichocephaly/scaphocephaly Brachydactyly fingers drastically shortened BRCA2 breast-ovarian cancer gene 2 (600185); 13q13.1 Broad forehead wide forehead, different from prominent forehead that bows frontally (frontal bossing) BSX brain-specific homeobox, mouse homologue of (611074); 11q24.1 C2ORF34 (CAMKMT) chromosome 2 open reading frame (calmodulin lysine N-methyltransferase–609559); 2p21 C5ORF36 (KIAA0825) chromosome 5 open reading frame 36 (not listed); 5q14— www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0825&keywords=C5orf36 C6orf70 (ERMARD) chromosome 6 open reading frame (endoplasmic reticulum membrane-associated RNA degradation protein—615532); 6q27 CACNA1C calcium channel, voltage-dependent, L type, alpha-1C subunit (114205); 12p13.3 CADPS2 calcium-dependent activator protein for secretion 2 (609978); 7q31.3 CALR3 calreticulin 3 (611414)—calcium-binding chaperone localized mainly in endoplasmic reticulum; 19p13.11 Camptodactyly finger bending forward (contracted); claw hand when all contracted CAST calpastatin isoform h (114090)—endogenous calpain (calcium-dependent cysteine protease inhibitor); 5q15 464 Glossary Cataract, corneal opacity respective clouding of eye lens or cornea (surface of eye) CC2D1A coiled-coil and C2 domains-containing protein 1A (610095): 19p13.12 CDH9, CDH10 cadherin 9 (609974); 5p14.1, cadherin 10 (604555); 5p15.1/.2— cadherins are integral membrane proteins that medicate Ca-dependent cell adhesion CDKL5 cyclin-dependent kinase-like 5 (300203); Xp22.13 CDKN1C cyclin-dependent kinase inhibitor 1C gene (600856); 11p14 CENPL centromeric protein L (611503)—a protein essential for proper kineto- chore function and mitotic progression; 1q25.1 CENTG2 (AGAP1) centaurin, gamma-2 (ARF GTPase-activating protein with GTPase domain—608651)—member of GTPase-activating protein family involved in membrane traffic and actin cytoskeleton dynamics; 2q37.3 Cervical sinuses fleshy openings in neck, remnants of the branchial grooves CETN3 centrin 3 centrosomic protein with 4 calcium-binding domains (602907); 5q14.3—centrins are members of a calcium-binding EF-hand protein super- family present in the centromeres of may eucaryotes CFTR cystic fibrosis transmembrane conductance regulator (602421); 7q31.2— encodes an ATP-binding cassette (ABC) transporter that functions as a chloride channel, mutated in cystic fibrosis CHAT choline acetyltransferase (118490); 10q11.23—biosynthetic enzyme for acetylcholine in central/peripheral nervous system CHD7, CHD8 chromodomain helicase DNA binding protein 7 (608892); 8q12.2, protein 8 (610528); 14q11.2 CHL1 (L1CAM2) cell-adhesion molecule L1-like (L1 cell adhesion molecule 2— 607417); 3p26.3 Choanal atresia or stenosis absence or narrowing of the upper bony nasal passages CHRM3 acetylcholine receptor, muscarinic, 3 (118494); 1q43 CHRNA4, CHRNA7 cholinergic receptor, neuronal nicotinic, alpha polypeptide 4 (118504); 20q13.3, polypeptide 7 (118511); 15q14 Claw hand bending forward or camptodactyly of all fingers and thumb Cleft lip/palate congenital failure of the upper lip or upper mouth (soft or hard palate) to fuse—cleft lip, cleft palate, or both may occur; a posterior midline U-shaped cleft of the soft palate occurs with Pierre Robin sequence because the small jaw pushes the tongue upward and interferes with palatal fusion Glossary 465 CLIC2 chloride intracellular chloride channel 2 (300138); Xq28 Clinodactyly lateral curving of a digit as opposed to the forward curve (contrac- ture) of camptodactyly CLPTM1L (CRR9) CLPTM1-like protein (cisplatin resistance-related protein 9 (612585); 5p15.33 CMIP C-MAF-inducing protein (610112); 16q23.2/.3—MAF is the avian mus- culoaponeurotic fibrosarcoma oncogene homolog CNTN3, CNTN4 contactin 3 (601325); 3p12.3, contactin 4 (607280); 3p26.3/.2— contactins are axon-associated cell adhesion molecular of the IG superfamily that play important roles in sculpting neural networks CNTNAP2 contactin-associated protein-like 2 (604569); 7q35q36 Coarse facies increased subcutaneous tissue of the face leading to a coarsened appearance Coloboma cleft of the iris that may extend to the retina, always inferior due to lack of eye cup fusion COMT catechol-o-methyltransferase (116790; 22q11.21)—the enzyme most involved in degradation of catecholamines Cortical dysplasia abnormal development of the outer layer of the brain (cortex), often detected as reduced cortical area by head MRI study COX7C cytochrome c oxidase subunit 7C precursor (603774); 5q14.3– nuclear-encoded component of the cytochrome c oxidase complex within mitochondria Craniosynostosis premature fusion of the cranial sutures that allow brain expan- sion during childhood growth CRK V-CRK avian sarcoma virus CT10 oncogene homolog (164762); 17p13.3 Cryptorchidism undescended testes, often accompanied by inguinal hernia and small scrotum CSMD3 cub and sushi multiple domains 3 (608399); 8q23.3—CUB indicates Complement C1r-U epidermal growth factor UEGF-bone morphogenetic protein BMP1, a domain in proteins with many functions ranging from complement activation, hemostasis or neural development/signal transduction; sushi is a complement control module CTNNA2, CTNND2 catenin, alpha-2 (114025); 2p12, catenin, delta-2 (604275); 5p15.2—catenins anchor cadherins to cell membranes Cupid’s bow lip enhanced curvature of the upper lip in the shape of a handle-bar mustache 466 Glossary Cutis aplasia area lacking skin, initially fleshy, then white