New classes phenytoin toxicity hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency Jaberi-Elahi syndrome developmental delay, intellectual disability, obesity, and dysmorphic features deafness, congenital heart defects, and posterior embryotoxon tumoral calcinosis, hyperphosphatemic, familial, 2 tumoral calcinosis, hyperphosphatemic, familial, 3 spondyloepimetaphyseal dysplasia, di rocco type neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures Ververi-Brady syndrome neurodevelopmental disorder with spasticity and poor growth spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures intellectual developmental disorder with or without epilepsy or cerebellar ataxia tetraamelia syndrome 2 humerofemoral hypoplasia with radiotibial ray deficiency congenital disorder of glycosylation with defective fucosylation neurodevelopmental disorder with brain, liver, and lung abnormalities glycosylphosphatidylinositol biosynthesis defect 17 protoporphyria, erythropoietic, 2 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities tetraamelia syndrome 1 immunodeficiency, developmental delay, and hypohomocysteinemia Sweeney-Cox syndrome actn3 deficiency neurodevelopmental disorder with dysmorphic facies and distal limb anomalies auditory neuropathy and optic atrophy platelet abnormalities with eosinophilia and immune-mediated inflammatory disease neuronopathy, distal hereditary motor, type 9 facial palsy, congenital, with ptosis and velopharyngeal dysfunction neurodevelopmental disorder with microcephaly, ataxia, and seizures neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities helix syndrome Pilarowski-Bjornsson syndrome Alkuraya-Kucinskas syndrome neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy neurodevelopmental disorder with severe motor impairment and absent language neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter glycosylphosphatidylinositol biosynthesis defect 15 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia amyotrophic lateral sclerosis, susceptibility to, 25 epilepsy, juvenile myoclonic, susceptibility to, 10 chromosome 1p35 deletion syndrome Diamond-Blackfan anemia-like congenital heart defects, multiple types, 5 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome Leber congenital amaurosis with early-onset deafness neurodevelopmental disorder with poor language and loss of hand skills neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy neurodevelopmental disorder with or without seizures and gait abnormalities neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies X-linked congenital hemolytic anemia cerebral sclerosis, diffuse, scholz type autoinflammation with arthritis and dyskeratosis neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies neurodevelopmental disorder with involuntary movements neurodevelopmental disorder with hypotonia, neuropathy, and deafness arthrogryposis multiplex congenita, neurogenic, with myelin defect 46,XX sex reversal 4 Cohen-Gibson syndrome neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies retinal dystrophy with or without macular staphyloma polydactyly, postaxial, type a7 cerebellar atrophy, developmental delay, and seizures vertebral, cardiac, renal, and limb defects syndrome 1 vertebral, cardiac, renal, and limb defects syndrome 2 joint laxity, short stature, and myopia congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay congenital heart defects and skeletal malformations syndrome microcephaly, short stature, and limb abnormalities maleylacetoacetate isomerase deficiency benign neoplasm of peripheral nervous system benign peripheral nerve granular cell tumor non-small cell squamous lung carcinoma synovial bursa disease sulfur metabolism disease liver adenosquamous carcinoma vulvar neuroendocrine carcinoma rectal adenosquamous carcinoma skin adenosquamous carcinoma hormone-resistant breast carcinoma hormone-resistant prostate carcinoma nasal cavity and paranasal sinus carcinoma amyotonia congenita nasal cavity and paranasal sinus neoplasm bronchiolitis obliterans organizing pneumonia obstructive nephropathy neurodevelopmental disorder with midbrain and hindbrain malformations disorder of appendix synovium disease X-linked spermatogenic failure 1 mycosis fungoides variant ectopic hormone secretion syndrome associated with neoplasia digestive system melanoma major salivary gland adenoid cystic carcinoma minor salivary gland adenoid cystic carcinoma minor salivary gland carcinoma ehlers-danlos syndrome, arthrochalasia type, 2 glycosylphosphatidylinositol biosynthesis defect 16 blepharocheilodontic syndrome 2 glucocorticoid deficiency 5 charcot-marie-tooth disease, axonal, type 2dd corneal dystrophy, posterior polymorphous, 4 Coffin-Siris syndrome 7 cardiomyopathy, familial hypertrophic 27 mental retardation, autosomal dominant 57 parkinsonism-dystonia, infantile, 2 parkinsonism-dystonia, infantile, 1 erythrocytosis, familial, 6 microcephaly 22, primary, autosomal recessive microcephaly 21, primary, autosomal recessive erythrocytosis, familial, 7 microcephaly 23, primary, autosomal recessive ehlers-danlos syndrome, classic-like, 2 leukodystrophy, hypomyelinating, 17 paraomphalocele sudden arrhythmia death syndrome encephalopathy due to defective mitochondrial and peroxisomal fission nondystrophic myotonia meconium ileus premature ovarian failure 15 intellectual disability, autosomal recessive 63 deafness, autosomal recessive 110 epileptic encephalopathy, early infantile, 66 pontocerebellar hypoplasia, type 1d ciliary dyskinesia, primary, 38 polycystic kidney disease 6 with or without polycystic liver disease inflammatory bowel disease 29 epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic, 6 peeling skin syndrome 6 ovarian dysgenesis 6 kleefstra syndrome 2 proteasome-associated autoinflammatory syndrome 2 retinitis pigmentosa 80 microcephaly 19, primary, autosomal recessive polycystic liver disease 3 with or without kidney cysts obsolete body mass index quantitative trait locus 19 Fanconi anemia, complementation group S combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency 34 blepharocheilodontic syndrome 1 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 multiple synostoses syndrome 4 amyotrophic lateral sclerosis, susceptibility to, 24 spermatogenic failure 20 spermatogenic failure 19 geleophysic dysplasia 3 spermatogenic failure 24 spermatogenic failure 23 spermatogenic failure 22 spermatogenic failure 21 spermatogenic failure 25 spermatogenic failure 29 spermatogenic failure 28 Fraser syndrome 3 Fraser syndrome 2 Fraser syndrome 1 mosaic variegated aneuploidy syndrome 3 spermatogenic failure 27 spermatogenic failure 26 leukodystrophy, hypomyelinating, 15 combined oxidative phosphorylation deficiency 36 elliptocytosis 3 multiple mitochondrial dysfunctions syndrome 6 leukodystrophy, hypomyelinating, 16 hydrocephalus, congenital, 3, with brain anomalies amyloidosis, primary localized cutaneous, 3