2018-09-10 release

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
• neurodegeneration with brain iron accumulation 8
• neurodegeneration with brain iron accumulation 7
• microcephaly 20, primary, autosomal recessive
• epilepsy, familial focal, with variable foci 4
• keratoconus 9
• orofaciodigital syndrome 18
• Skraban-Deardorff syndrome
• Noonan syndrome-like disorder with loose anagen hair 1
• gaze palsy, familial horizontal, with progressive scoliosis, 2
• pituitary adenoma 5, multiple types
• spermatogenic failure 18
• pontocerebellar hypoplasia, type 11
• ovarian dysgenesis 5
• pituitary adenoma 3, multiple types
• combined oxidative phosphorylation deficiency 33
• combined oxidative phosphorylation deficiency 32
• epiphyseal dysplasia, multiple, 7
• proteasome-associated autoinflammatory syndrome 3
• immunodeficiency, common variable, 14
• proteasome-associated autoinflammatory syndrome 1
• immunodeficiency 11b with atopic dermatitis
• immunodeficiency 53
• myopathy, centronuclear, 6, with fiber-type disproportion
• peroxisome biogenesis disorder 10b
• congenital disorder of glycosylation, type IIq
• avascular necrosis of femoral head, primary, 2
• avascular necrosis of femoral head, primary, 1
• Townes-Brocks syndrome 2
• Townes-Brocks syndrome 1
• noonan syndrome-like disorder with loose anagen hair 2
• Stankiewicz-Isidor syndrome
• microcephaly 18, primary, autosomal dominant
• anauxetic dysplasia 2
• anauxetic dysplasia 1
• short-rib thoracic dysplasia 17 with or without polydactyly
• Lopes-Maciel-Rodan syndrome
• bleeding disorder, platelet-type, 21
• osteogenesis imperfecta, type 19
• intellectual disability, x-linked 107
• myopia 26, X-linked, female-limited