EpiSign Variant

Alpha-thalassemia/X-linked impaired intellectual development syndrome, Angelman syndrome (UBE3A sequence variants not detected), Ankylosing spondylitis, Arboleda-Tham syndrome, ARID1A duplication-related syndrome, Au-Kline syndrome, Autosomal dominant cerebellar ataxia\, deafness\, and narcolepsy, Autosomal dominant intellectual developmental disorder\, type 7, Autosomal dominant intellectual developmental disorder\, type 21, Autosomal dominant intellectual developmental disorder\, type 23, Autosomal dominant intellectual developmental disorder\, type 29, Autosomal dominant intellectual developmental disorder\, type 51, Autosomal dominant intellectual developmental disorder\, type 68, Autosomal recessive intellectual disability disorder\, type 65, BAFopathy 1: Coffin-Siris syndromes 1-5\, 7 & Nicolaides-Baraitser, BAFopathy 2: Coffin-Siris syndrome 1 & 2, BCLAF3-related syndrome, Beck-Fahrner syndrome, Beckwith-Wiedemann syndrome (CDKN1C sequence variants not detected), Blepharophimosis-impaired intellectual development syndrome, Borjeson-Forssman-Lehmann syndrome, Branchial arch abnormalities\, choanal atresia\, athelia\, hearling loss\, and hypothyroidism syndrome, CDK13-related syndrome, CHARGE syndrome, CHD4-related syndrome, CHD6-related syndrome, Chromosome 1p36 deletion syndrome, Chromosome 8p inverted duplication/deletion syndrome, Chromosome 19p13.13 deletion syndrome (NFIX sequence variants not detected), Chromosome Xp11.22 duplication syndrome, Chung-Jansen syndrome, Clark-Baraitser syndrome, Coffin-Siris syndrome 1-7, Coffin-Siris syndrome 12, Congenital heart defects\, dysmorphic facial features\, and intellectual development disorder, Cornelia de Lange syndrome 1-4, Cornelia de Lange syndrome 7, Craniosynostosis\, type 3, DEGCAGS syndrome, DeSanto-Shinawi syndrome, Developmental and epileptic encephalopathy 54, Developmental and epileptic encephalopathy 94, Developmental delay\, dysmorphic facies\, and brain anomalies, Developmental delay\, hypotonia\, musculoskeletal defects\, and behavioral abnormalities, Developmental delay with or without dysmorphic facies and autism, Developmental delay with variable intellectual disability and dysmorphic facies, Diabetes mellitus\, transient neonatal 1, Diamond-Blackfan anemia, Diets-Jongmans syndrome, DMAP1-related syndrome, Down syndrome (Trisomy 21), Dystonia 28\, childhood-onset, Early-onset epilepsy with or without developmental delay\, type 2, EHMT1 duplicated-related syndrome, EHMT2-related syndrome, Fanconi anemia, Fascioscapulohumeral muscular dystrophy\, type 2, Fetal valproate syndrome, Floating-Harbor syndrome, Fragile X syndrome, Gabriele-de Vries syndrome, Genitopatellar syndrome, H4C4-related syndrome, H4C6-related syndrome, Hao-Fountain syndrome, Helsmoortel-Van der Aa syndrome, Hunter-McAlpine craniosynostosis syndrome, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Immunodeficiency 31C\, autosomal dominant chronic mucocutaneous candidiasis, Immunodeficiency-centromeric instability-facial anomalies syndrome\, types 1-4, Intellectual developmental disorder with autism and macrocephaly,  Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies\, speech delay\, and T-cell abnormalities, Intellectual developmental disorder with hypertelorism and distinctive facies, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with seizures and language delay, Jacobs syndrome, Kabuki syndrome 1 & 2, Kagami-Ogata syndrome, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, KBG syndrome, KDM5B-related neurodevelopmental disorder, Kleefstra syndrome 1, Klinefelter syndrome, Koolen-De Vries syndrome, Luscan-Lumish syndrome, MACROH2A1-related syndrome, MAU2-associated syndrome, Menke-Hennekam syndrome, MORC-related syndrome,  Mowat-Wilson syndrome, Mulchandani-Bhoj-Conlin syndrome, Multi-locus imprinting disturbance, Myhre-Wilson syndrome, Neuroocular syndrome, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmenal delay with or without autism or seizures, Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with hypotonia\, stereotypic hand movements\, and impaired language, Neurodevelopmental disorder with microcephaly\, cerebral atrophy\, and visual impairment, Neurodevelopmental disorder with speech impairment and dysmorphic facies, Nicolaides-Baraitser syndrome, NOTCH1-related syndrome, NSD2 duplication-related syndrome, Ohdo syndrome\, SBBYS variant, PDS5B-related syndrome, Phelan-McDermid syndrome (SHANK3 sequence variants not detected), PHF12-related syndrome, Pitt-Hopkins syndrome, Potocki-Lupski syndrome, Prader-Willi syndrome, PRC2-complex disorders: Weaver\, Cohen-Gibson\, and Imagawa-Matsumoto syndromes,  Pseudohypoparathyroidism\, type 1A & 1B, Rahman syndrome, Rauch-Steindl syndrome, Recurrent constellations of embryonic malformations: VATER/VACTERL association\, Oculoauriculovertbral syndrome, Renpenning syndrome, ReNU syndrome, Rubinstein-Taybi syndrome 1 & 2, Russell-Silver syndrome 1 & 2, Schinzel-Giedion midface retraction syndrome, Schuurs-Hoeijmakers syndrome, Sifrim-Hitz-Weiss syndrome, SMARCA5-related syndrome, Smith-Kingsmore syndrome, Smith-Magenis syndrome (RAI1 sequence variants not detected), Sotos syndrome, Tatton-Brown-Rahman syndrome, Temple syndrome, Tessadori-Bicknell-van Haaften neurodevelopmental syndrome, Trisomy X, Turner syndrome, UPD 16, Velocardiofacial syndrome, WAPL-associated syndrome, White-Kernohan syndrome, White-Sutton syndrome, Wieacker-Wolff syndrome, Wiedemann-Steiner syndrome, Williams-Beuren region duplication syndrome, Williams-Beuren syndrome, Witteveen-Kolk syndrome, Wolf-Hirschhorn syndrome, Xia-Gibbs syndrome, X-linked impaired intellectual developmental syndrome, X-linked intellectual developmental disorder\, type 93, X-linked intellectual developmental disorder\, type 97, X-linked intellectual developmental disorder\, type 112, X-linked syndromic intellectual developmental disorder\, Armfield type, X-linked syndromic intellectual developmental disorder\, Claes-Jensen type, X-linked intellectual disorder\, Lubs type, X-linked syndromic intellectual developmental disorder\, Nascimento type, X-linked intellectual developmental disorder\, Siderius type, X-linked syndromic intellectual developmental disorder\, Snyder-Robinson type