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• 11q partial monosomy syndrome
• 3-methylglutaconic aciduria, type VIIB
• 3p- syndrome
• 46,XY sex reversal 4
• 4p partial monosomy syndrome
• 7q11.23 microduplication syndrome
• Achard syndrome
• Acro-renal-mandibular syndrome
• Acrocraniofacial dysostosis
• Acrofacial dysostosis Cincinnati type
• Acrofacial dysostosis Rodriguez type
• Acromegaloid facial appearance syndrome
• Acroosteolysis-keloid-like lesions-premature aging syndrome
• Acrootoocular syndrome
• Adams-Oliver syndrome 2
• Aglossia-adactyly syndrome
• Agnathia-otocephaly complex
• AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
• Al-Gazali syndrome
• ALG1-congenital disorder of glycosylation
• Alkuraya-Kucinskas syndrome
• Alveolar capillary dysplasia with pulmonary venous misalignment
• Alzahrani-Kuwahara syndrome
• Amish lethal microcephaly
• Andersen Tawil syndrome
• Aprosencephaly cerebellar dysgenesis
• Arterial tortuosity syndrome
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
• Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
• Arthrogryposis multiplex congenita 5 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
• Arthrogryposis, distal, type 2E Arthrogryposis, renal dysfunction, and cholestasis 1
• Asymmetric short stature syndrome
• Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Atrioventricular defect-blepharophimosis-radial and anal defect syndrome Auriculocondylar syndrome 1 Auriculocondylar syndrome 2 Auriculocondylar syndrome 3 Autism spectrum disorder due to AUTS2 deficiency Autosomal dominant Robinow syndrome 1 Autosomal dominant Robinow syndrome 2 Autosomal dominant Robinow syndrome 3 Autosomal recessive multiple pterygium syndrome Autosomal recessive omodysplasia Autosomal recessive osteopetrosis 5 Autosomal recessive Robinow syndrome Bailey-Bloch congenital myopathy Baller-Gerold syndrome Barber-Say syndrome Bartsocas-Papas syndrome 1 Bartsocas-Papas syndrome 2 BDV syndrome Bent bone dysplasia syndrome 1 Bifunctional peroxisomal enzyme deficiency Blepharophimosis - intellectual disability syndrome, MKB type Blepharophimosis - intellectual disability syndrome, Ohdo type Blepharophimosis - intellectual disability syndrome, SBBYS type Bohring-Opitz syndrome Bone marrow failure syndrome 3 Bowen-Conradi syndrome Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Branchiooculofacial syndrome Bryant-Li-Bhoj neurodevelopmental syndrome 1 C syndrome Camptomelic dysplasia Cardio-facio-cutaneous syndrome Cardiocranial syndrome, Pfeiffer type Cardiofacioneurodevelopmental syndrome Carey-Fineman-Ziter syndrome 2 Cat eye syndrome Cataract - congenital heart disease - neural tube defect syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Catel-Manzke syndrome Cenani-Lenz syndactyly syndrome Cerebellar atrophy, visual impairment, and psychomotor retardation; Cerebellar dysfunction with variable cognitive and behavioral abnormalities Cerebro-costo-mandibular syndrome Cerebrooculofacioskeletal syndrome 1 Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 3 Cerebrooculofacioskeletal syndrome 4 CHARGE association Child syndrome Chilton-Okur-Chung neurodevelopmental syndrome Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Chondrodysplasia Blomstrand type Chondrodysplasia with joint dislocations, gPAPP type Chromosome 13q14 deletion syndrome Chromosome 13q33-q34 deletion syndrome Chromosome 14q11-q22 deletion syndrome Chromosome 15q11.2 deletion syndrome Chromosome 15q26-qter deletion syndrome Chromosome 16p12.2-p11.2 deletion syndrome Chromosome 16p13.3 duplication syndrome Chromosome 16q22 deletion syndrome Chromosome 17q12 deletion syndrome Chromosome 17q12 duplication syndrome Chromosome 19q13.11 deletion syndrome, distal Chromosome 1p35 deletion syndrome Chromosome 1p36 deletion syndrome, proximal Chromosome 1q21.1 deletion syndrome CHROMOSOME 1qter DELETION SYNDROME Chromosome 22q11.2 microduplication syndrome Chromosome 2q32-q33 deletion syndrome Chromosome 5q12 deletion syndrome Chromosome 6q11-q14 deletion syndrome Chromosome 8q21.11 deletion syndrome Chromosome 9p deletion syndrome CK syndrome Cleft palate, proliferative retinopathy, and developmental delay Cleft palate-large ears-small head syndrome Cleidocranial dysostosis Coffin-Siris syndrome 12 Coffin-Siris syndrome 6 COG1 congenital disorder of glycosylation COG7 congenital disorder of glycosylation COG8-congenital disorder of glycosylation Cohen syndrome Cold-induced sweating syndrome 1 Cole-Carpenter syndrome 1 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Complex lethal osteochondrodysplasia Congenital contractural arachnodactyly Congenital contractures of the limbs and face, hypotonia, and developmental delay Congenital disorder of deglycosylation 2 Congenital disorder of glycosylation type 1E Congenital disorder of glycosylation, type IIr Congenital disorder of glycosylation, type IIw Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular hypertrophy-cerebral syndrome Congenital myasthenic syndrome 19 Congenital nonprogressive myopathy with Moebius and Robin sequences Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome 5 Costello syndrome Cowden syndrome Cowden syndrome 5 Cowden syndrome 6 Coxopodopatellar syndrome Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 3 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 Craniofacial dysplasia - osteopenia syndrome Cree intellectual disability syndrome Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis laxa, autosomal recessive, type 1B Cystic fibrosis-gastritis-megaloblastic anemia syndrome D-2-hydroxyglutaric aciduria 1 Deafness with labyrinthine aplasia, microtia, and microdontia Deafness-intellectual disability, Martin-Probst type syndrome DEGCAGS syndrome Deletion of short arm of chromosome 18 Desmosterolosis Developmental and epileptic encephalopathy 100 Developmental and epileptic encephalopathy, 64 Developmental and epileptic encephalopathy, 77 Developmental and epileptic encephalopathy, 80 Developmental delay with or without dysmorphic facies and autism Developmental delay with short stature, dysmorphic facial features, and sparse hair Developmental delay with variable neurologic and brain abnormalities Dextrocardia with unusual facies and microphthalmia Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia 6 Diaphanospondylodysostosis DiGeorge syndrome Distal 10q deletion syndrome Distal arthrogryposis type 2B1 Distal arthrogryposis type 5D Distichiasis-lymphedema syndrome DPAGT1-congenital disorder of glycosylation Dubowitz syndrome DYRK1A-related intellectual disability syndrome Dysosteosclerosis Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome, spondylodysplastic type, 1 Emanuel syndrome Endocrine-cerebro-osteodysplasia syndrome Epileptic encephalopathy, infantile or early childhood, 1 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome Facial paresis, hereditary congenital, 3 Faciocardiomelic syndrome Faciocardiorenal syndrome Faciothoracogenital syndrome Fanconi anemia complementation group L Fanconi anemia complementation group P Faundes-Banka syndrome Feingold syndrome type 1 Femoral hypoplasia - unusual facies syndrome Ferguson-Bonni neurodevelopmental syndrome Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 3 Fetal akinesia deformation sequence 4 FG syndrome Fibrochondrogenesis 2 Fibromuscular dysplasia, multifocal Fibulo-ulnar hypoplasia-renal anomalies syndrome Fontaine progeroid syndrome Fowler syndrome Frank-Ter Haar syndrome Fraser syndrome 3 Frias syndrome Frontoocular syndrome Gabriele de Vries syndrome Galloway-Mowat syndrome 1 Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome 3 Galloway-Mowat syndrome 7 GAPO syndrome Gastrointestinal defects and immunodeficiency syndrome 2 Gaucher disease perinatal lethal Genito-palato-cardiac syndrome Genitopatellar syndrome Genitourinary and/or brain malformation syndrome Gillessen-Kaesbach-Nishimura syndrome Global developmental delay with speech and behavioral abnormalities Goldenhar syndrome Gordon syndrome Grant syndrome Granulocytopenia with immunoglobulin abnormality Greenberg dysplasia Growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor type 1 deficiency Growth delay-hydrocephaly-lung hypoplasia syndrome Hajdu-Cheney syndrome Hallermann-Streiff syndrome Hamartoma of hypothalamus Harel-Yoon syndrome Hecht syndrome Hennekam-Beemer syndrome Hereditary spastic paraplegia 23 Holoprosencephaly 13, X-linked Hutchinson-Gilford syndrome Hydrolethalus syndrome 1 Hydrolethalus syndrome 2 Hyper-IgE recurrent infection syndrome 3, autosomal recessive Hypertelorism, microtia, facial clefting syndrome Hypomandibular faciocranial dysostosis Hypoparathyroidism-retardation-dysmorphism syndrome Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Immunodeficiency 49 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Infantile neuroaxonal dystrophy Infantile-onset X-linked spinal muscular atrophy Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies Intellectual developmental disorder, autosomal dominant 64 Intellectual developmental disorder, autosomal dominant 65 Intellectual disability, autosomal dominant 1 Intellectual disability, X-linked 61 Intellectual disability, X-linked syndromic, Turner type Intellectual disability, X-linked, syndromic, Bain type Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-hypotonic facies syndrome, X-linked, 1 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency Isolated cleft palate Isolated congenital hypoglossia/aglossia Isolated Pierre-Robin syndrome Isotretinoin-like syndrome Kabuki syndrome Kabuki syndrome 2 Keppen-Lubinsky syndrome Khan-Khan-Katsanis syndrome KINSSHIP syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Knobloch syndrome 2 Kyphomelic dysplasia Langer mesomelic dysplasia syndrome Langer-Giedion syndrome Larsen-like syndrome, B3GAT3 type Lateral meningocele syndrome Lathosterolosis Legius syndrome Lenz-Majewski hyperostosis syndrome Lethal arthrogryposis-anterior horn cell disease syndrome Lethal congenital contracture syndrome 1 Lethal congenital contracture syndrome 2 Lethal congenital contracture syndrome 7 Lethal congenital contracture syndrome 9 Lethal faciocardiomelic dysplasia Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal Kniest-like syndrome Lethal multiple pterygium syndrome Lethal osteosclerotic bone dysplasia Lethal tight skin contracture syndrome Lissencephaly 7 with cerebellar hypoplasia Loeys-Dietz syndrome 1 Loeys-Dietz syndrome 2 Lymphatic malformation 6 Mandibular hypoplasia-deafness-progeroid syndrome Mandibuloacral dysplasia progeroid syndrome Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with ptosis, autosomal dominant Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Mandibulofacial dysostosis-microcephaly syndrome Marbach-Rustad progeroid syndrome Marden-Walker syndrome Marfan syndrome Marshall syndrome Martsolf syndrome 1 Matthew-Wood syndrome Mayer-Rokitansky-Küster-Hauser syndrome type 2 Meckel syndrome 13 Meckel syndrome 14 Meckel syndrome, type 1 Megalocornea-intellectual disability syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome 3 Meier-Gorlin syndrome 4 Meier-Gorlin syndrome 5 Melnick-Needles syndrome Menke-Hennekam syndrome 1 Menke-Hennekam syndrome 2 Mesomelic dwarfism-cleft palate-camptodactyly syndrome Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Methylmalonic acidemia with homocystinuria, type cblJ Microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic primordial dwarfism, type 3 Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism, Toriello type Microcephaly 13, primary, autosomal recessive Microcephaly 16, primary, autosomal recessive Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Microcephaly 4, primary, autosomal recessive Microcephaly and chorioretinopathy 2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Microcephaly, normal intelligence and immunodeficiency Microcephaly, short stature, and impaired glucose metabolism 2 Microcephaly-micromelia syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Microphthalmia with brain and digit anomalies Microphthalmia, syndromic 12 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Miller Dieker syndrome Miller syndrome Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mohr syndrome Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 2 Motor developmental delay due to 14q32.2 paternally expressed gene defect Mucolipidosis type II Mucopolysaccharidosis, MPS-I-H/S Mullegama-Klein-Martinez syndrome Mullerian derivatives-lymphangiectasia-polydactyly syndrome Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric osteolysis nodulosis arthropathy spectrum Multiple benign circumferential skin creases on limbs 1 Multiple congenital anomalies-hypotonia-seizures syndrome 1 Multiple congenital anomalies-hypotonia-seizures syndrome 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myasthenic syndrome, congenital, 1B, fast-channel Myofibrillar myopathy 8 Myopathy, centronuclear, 5 Myopathy, congenital, progressive, with scoliosis Myopathy, congenital, with fiber-type disproportion, X-linked Myopathy, congenital, with tremor Myopathy, epilepsy, and progressive cerebral atrophy Myopathy, lactic acidosis, and sideroblastic anemia 1 Nager syndrome NEK9-related lethal skeletal dysplasia Nemaline myopathy 9 Neonatal pseudo-hydrocephalic progeroid syndrome Neonatal-onset encephalopathy with rigidity and seizures Nephrotic syndrome, type 11 Nestor-Guillermo progeria syndrome Neu-Laxova syndrome 1 Neu-Laxova syndrome 2 Neurodevelopmental disorder with central and peripheral motor dysfunction Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Neurodevelopmental disorder with hearing loss and spasticity Neurodevelopmental disorder with hypotonia and brain abnormalities Neurodevelopmental disorder with hypotonia and dysmorphic facies Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Neurodevelopmental disorder with neuromuscular and skeletal abnormalities Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Neurodevelopmental, jaw, eye, and digital syndrome Neuropathy, congenital hypomyelinating, 3 Noonan syndrome 1 Noonan syndrome 13 Noonan syndrome 2 Oculocerebrofacial syndrome, Kaufman type Oculodentodigital dysplasia, autosomal recessive Ogden syndrome Okur-Chung neurodevelopmental syndrome Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Orofacial cleft 13 Orofacial-digital syndrome IV Orofaciodigital syndrome type 14 Orofaciodigital syndrome type 6 Oromandibular-limb hypogenesis spectrum Osteodysplastic primordial dwarfism, type 1 Osteogenesis imperfecta type 10 Osteogenesis imperfecta type 12 Osteogenesis imperfecta type III Osteogenesis imperfecta, type 18 Osteopathia striata with cranial sclerosis Oto-palato-digital syndrome, type II Otospondylomegaepiphyseal dysplasia Pallister-Killian syndrome Parenti-mignot neurodevelopmental syndrome Paris-Trousseau thrombocytopenia Paternal uniparental disomy of chromosome 14 Patterson-Stevenson-Fontaine syndrome Pelviscapular dysplasia Periventricular nodular heterotopia 7 Perlman syndrome Peroxisome biogenesis disorder 10A (Zellweger) Peroxisome biogenesis disorder 13A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 5A (Zellweger) Peters plus syndrome PGM1-congenital disorder of glycosylation Phelan-McDermid syndrome PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Pierre Robin sequence with pectus excavatum and rib and scapular anomalies Pierre Robin syndrome-faciodigital anomaly syndrome Poikiloderma with neutropenia Polymicrogyria with or without vascular-type ehlers-danlos syndrome Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Pontocerebellar hypoplasia type 2E Pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Pontocerebellar hypoplasia, type 12 Potocki-Lupski syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome Prolidase deficiency Proximal 16p11.2 microdeletion syndrome Pseudoaminopterin syndrome Pseudodiastrophic dysplasia Pyknodysostosis RAB23-related Carpenter syndrome Radial aplasia-thrombocytopenia syndrome Radio-Tartaglia syndrome Rauch-Steindl syndrome Recombinant 8 syndrome Renal and mullerian duct hypoplasia Renpenning syndrome RFT1-congenital disorder of glycosylation Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic limb shortening with dysmorphic features Rhizomelic syndrome, Urbach type Richieri Costa-Pereira syndrome RIN2 syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 3 Roberts-SC phocomelia syndrome Robin sequence-oligodactyly syndrome Robinow syndrome, autosomal recessive 2 Rolland-Debuqois syndrome Rothmund-Thomson syndrome type 2 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Saldino-Mainzer syndrome Say-Barber-Miller syndrome Schilbach-Rott syndrome Schwartz-Jampel syndrome type 1 Seckel syndrome 1 Seckel syndrome 2 Seckel syndrome 5 Seckel syndrome 8 Seckel syndrome 9 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome SHORT syndrome Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Short-rib thoracic dysplasia 18 with polydactyly Short-rib thoracic dysplasia 20 with polydactyly Shprintzen-Goldberg syndrome Silver-Russell syndrome 1 Silver-russell syndrome 2 Skeletal dysplasia and progressive central nervous system degeneration, lethal Skin creases, congenital symmetric circumferential, 2 Skraban-Deardorff syndrome Smith-Lemli-Opitz syndrome Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant Splenogonadal fusion-limb defects-micrognathia syndrome Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondylospinal thoracic dysostosis Squalene synthase deficiency SSR4-congenital disorder of glycosylation Stankiewicz-Isidor syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stromme syndrome Stüve-Wiedemann syndrome 1 Sweeney-Cox syndrome Syndromic X-linked intellectual disability Claes-Jensen type Syndromic X-linked intellectual disability Najm type TARP syndrome Teebi hypertelorism syndrome 1 Temtamy syndrome Tessadori-Van Haaften neurodevelopmental syndrome 4 Tetraamelia syndrome 1 Tetraamelia syndrome 2 Thickened earlobes-conductive deafness syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Tolchin-Le Caignec syndrome Toriello-Carey syndrome Treacher Collins syndrome 1 Treacher Collins syndrome 2 Treacher Collins syndrome 3 Treacher Collins syndrome 4 Trichorhinophalangeal dysplasia type I Trigonocephaly-bifid nose-acral anomalies syndrome Trisomy 18-like syndrome Van Bogaert-Hozay syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome 1 Van Maldergem syndrome 2 Ventriculomegaly and arthrogryposis Vertebral hypersegmentation and orofacial anomalies Vici syndrome VISS syndrome Warburg micro syndrome 1 Warburg micro syndrome 3 Weyers ulnar ray/oligodactyly syndrome Whistling face syndrome, recessive form Wieacker-Wolff syndrome Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome WT limb-blood syndrome X-linked intellectual disability with marfanoid habitus X-linked intellectual disability-craniofacioskeletal syndrome X-linked lethal multiple pterygium syndrome X-linked lissencephaly with abnormal genitalia Yunis-Varon syndrome Zaki syndrome