EpiSign Complete

19p13.13 deletion syndrome (NFIX sequence variants not detected), 1p36 deletion syndrome, 7q11.23 duplication syndrome, Alpha-thalassemia/X-linked impaired intellectual development syndrome, Angelman syndrome (UBE3A sequence variants not detected), Arboleda-Tham syndrome, ARID1A duplication-related 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 51, BAFopathy 1: Coffin-Siris syndromes 1-4 and Nicolaides-Baraitser, BAFopathy 2: Coffin-Siris syndrome 1 & 2, Beck-Fahrner syndrome, Beckwith-Wiedemann syndrome (CDKN1C sequence variants not detected), Blepharophimosis-impaired intellectual development syndrome, Borjeson-Forssman-Lehmann syndrome, CHARGE syndrome, Chung-Jansen syndrome, Clark-Baraitser syndrome, Coffin-Siris syndrome 3, Coffin-Siris syndrome 4, Coffin-Siris syndrome 6, Coffin-Siris syndrome 9, Congenital heart defects\, dysmorphic facial features\, and intellectual development disorder, Cornelia de Lange syndrome, DEGCAGS syndrome, Developmental and epileptic encephalopathy 54, Developmental and epileptic encephalopathy 94, Developmental delay with variable intellectual disability and dysmorphic facies, Diabetes mellitus\, transient neonatal 1, Diets-Jongmans syndrome, Dystonia 28, Fanconi anemia, Fetal valproate syndrome, Floating-Harbor syndrome, Fragile X syndrome, Gabriele-de Vries syndrome, Genitopatellar syndrome, Hao-Fountain syndrome, Helsmoortel-Van der Aa syndrome, Hunter-McAlpine craniosynostosis syndrome, Immunodeficiency-centromeric instability-facial anomalies syndrome\, types 1-4, Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with dysmorphic facies\, speech delay\, and T-cell abnormalities, Intellectual developmental disorder with seizures and language delay, Kabuki syndrome 1, Kabuki syndrome 2, Kagami-Ogata syndrome, KBG syndrome, KDM2B-related syndrome, Kleefstra syndrome 1, Klinefelter syndrome, KMT2D-related syndrome, Koolen-De Vries syndrome, Luscan-Lumish syndrome, Menke-Hennekam syndrome, Mowat-Wilson syndrome, MSL2-related syndrome, Mulchandani-Bhoj-Conlin syndrome, Multi-locus imprinting disturbance, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder with hypotonia\, stereotypic hand movements\, and impaired language, Neuroocular syndrome, Nicolaides-Baraitser syndrome, NSD2 duplication-related syndrome, Ohdo syndrome, SBBYS variant, Phelan-McDermid syndrome (SHANK3 sequence variants not detected), Pitt-Hopkins syndrome, Potocki-Lupski syndrome, Prader-Willi syndrome, PRC2-complex disorders: Weaver and Cohen-Gibson syndromes, Pseudohypoparathyroidism\, type 1A, Pseudohypoparathyroidism\, type 1B, Rahman syndrome, Rauch-Steindl syndrome, Renpenning syndrome, Rubinstein-Taybi syndrome 1, Rubinstein-Taybi syndrome 2, Russell-Silver syndrome, Sifrim-Hitz-Weiss syndrome, SLC32A1-related disorder, Smith-Magenis syndrome (RAI1 sequence variants not detected), Sotos syndrome, Tatton-Brown-Rahman syndrome, Temple syndrome, Trisomy 21 (Down syndrome), Turner syndrome, Velocardiofacial 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, X-linked intellectual developmental disorder\, type 93, X-linked intellectual developmental disorder\, type 97, X-linked syndromic intellectual developmental disorder\, Armfield type, X-linked syndromic intellectual developmental disorder\, Claes-Jensen type, X-linked syndromic intellectual developmental disorder\, Nascimento type, X-linked syndromic intellectual developmental disorder\, Snyder-Robinson type, Xp11.22 duplication syndrome