| children | - 3-Methylglutaconic aciduria type 2 297231002
- Abruzzo Erickson syndrome 718574003
- Adrenomyeloneuropathy 1269423000
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Aland Islands eye disease 725168006
- Albinism with deafness syndrome 722285005
- Allan-Herndon-Dudley syndrome 702327009
- Alpha thalassemia X-linked intellectual disability syndrome 715342005
- Androgen resistance syndrome 12313004
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome 720986005
- Arts syndrome 702441001
- Atrophia bulborum hereditaria 15228007
- Beta thalassemia X-linked thrombocytopenia syndrome 718196002
- Blue cone monochromatism 789676005
- Borjeson-Forssman-Lehmann syndrome 21634003
- Brachytelephalangic chondrodysplasia punctata 778067002
- Brunner syndrome 718210003
- Bulbospinal neuronopathy 230253001
- Bullous dystrophy macular type 725589005
- Cerebellum agenesis with hydrocephaly 715990006
- Chondrodysplasia punctata, X-linked recessive type 254082007
- Choroideremia 75241009
- Christianson syndrome 702354007
- Chromosome Xp11.3 microdeletion syndrome 719808002
- Chromosome Xq27.3q28 duplication syndrome 718881004
- CK syndrome 773329005
- Combined immunodeficiency due to moesin deficiency 1179285006
- Congenital adrenal hypoplasia, X-linked 237764004
- Congenital disorder of glycosylation type 1s 733451007
- Congenital disorder of glycosylation type 1y 733115009
- Contiguous ABCD1 DXS1357E deletion syndrome 773415005
- Cutis laxa, x-linked 59399004
- Deafness and hypogonadism syndrome 718714006
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness-dystonia-optic neuronopathy syndrome 702423009
- Dent's disease 444645005
- Distal Xq28 microduplication syndrome 773670004
- Early onset parkinsonism and intellectual disability syndrome 716107009
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Ferro-cerebro-cutaneous syndrome 774151000
- FG syndrome type 1 1237179007
- FLNA-related X-linked myxomatous valvular dysplasia 1186709006
- FRAXE intellectual disability syndrome 716709002
- Fried syndrome 718848000
- Glycogen storage disease due to muscle phosphorylase kinase deficiency 819953000
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 1187462006
- Hoyeraal-Hreidarsson syndrome 707276009
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hyperekplexia epilepsy syndrome 785726009
- Infantile epileptic dyskinetic encephalopathy 771223000
- Intellectual disability, alacrima, achalasia syndrome 763741001
- Intellectual disability, developmental delay, contracture syndrome 722456001
- Isolated congenital megalocornea 734026006
- Juberg Marsidi syndrome 721875000
- Juvenile retinoschisis 86923008
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
- L1 syndrome 716996008
- Laryngeal abductor paralysis with intellectual disability syndrome 724178000
- Lenz microphthalmia syndrome 438504004
- Lesch-Nyhan syndrome 10406007
- Leukoencephalopathy with metaphyseal chondrodysplasia syndrome 719405005
- Lowe syndrome 79385002
- Macrocephaly, intellectual disability, left ventricular non compaction syndrome 1187642008
- Male emopamil-binding protein disorder with neurological defect 782739000
- McLeod neuroacanthocytosis syndrome 724172004
- MEHMO syndrome 722037004
- Menkes kinky-hair syndrome 59178007
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome 702816000
- Microphthalmia with ankyloblepharon and intellectual disability syndrome 717222003
- Morse Rawnsley Sargent syndrome 716169009
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Mucopolysaccharidosis, MPS-II 70737009
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006
- N syndrome 723410002
- Nephrogenic syndrome of inappropriate antidiuresis 723440000
- Ocular albinism with late-onset sensorineural deafness 722054007
- Ocular albinism, type I 78642008
- Oro-facial digital syndrome type 8 722106001
- Pallister W syndrome 719020006
- Partington syndrome 702412005
- Pelizaeus-Merzbacher disease in female carrier 1003881009
- Pelizaeus-Merzbacher disease null syndrome 1003447007
- Pelizaeus-Merzbacher disease, classic form 87607002
- Pelizaeus-Merzbacher disease, connatal variant 59636002
- Pettigrew syndrome 719139003
- Phosphoribosylpyrophosphate synthetase superactivity 723454008
- Pierre Robin sequence faciodigital anomaly syndrome 723461007
- Prieto Badia Mulas syndrome 719140001
- Primary ciliary dyskinesia and retinitis pigmentosa syndrome 719282008
- Renpenning syndrome 699669001
- SCARF syndrome 734173003
- Scholte syndrome 722002002
- Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome 774149004
- Severe neonatal onset encephalopathy with microcephaly 771303004
- Severe X-linked intellectual disability Gustavson type 722213009
- Severe X-linked mitochondrial encephalomyopathy 722212004
- Severe X-linked myotubular myopathy 46804001
- Simpson-Golabi-Behmel syndrome 439143004
- Skeletal dysplasia with intellectual disability syndrome 722478008
- Snyder-Robinson syndrome 702416008
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome 722209002
- Spondylometaphyseal dysplasia Golden type 773304004
- Syndromic X-linked intellectual disability due to JARID1C mutation 719161008
- Syndromic X-linked intellectual disability type 11 718900002
- Syndromic X-linked intellectual disability type 7 719160009
- T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency 765145001
- TARP syndrome 725911008
- Trichodysplasia with amelogenesis imperfecta syndrome 719911000
- Type III transitional Pelizaeus-Merzbacher disease 230368002
- X chromosome-linked sideroblastic anemia 48983004
- X-linked agammaglobulinemia with growth hormone deficiency 234533006
- X-linked calvarial hyperostosis 782786001
- X-linked central congenital hypothyroidism with late-onset testicular enlargement 771510006
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked Charcot-Marie-Tooth disease type 2 763457000
- X-linked Charcot-Marie-Tooth disease type 3 763458005
- X-linked Charcot-Marie-Tooth disease type 4 763400005
- X-linked Charcot-Marie-Tooth disease type 5 763460007
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked cone dysfunction syndrome with myopia 718718009
- X-linked congenital dyserythropoietic anemia with thrombocytopenia 722475006
- X-linked corneal dermoid 715426004
- X-linked distal arthrogryposis multiplex congenita 719836007
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia 782759001
- X-linked dystonia parkinsonism 698279003
- X-linked Ehlers-Danlos syndrome 67202007
- X-linked Emery-Dreifuss muscular dystrophy 1156836006
- X-linked endothelial corneal dystrophy 718579008
- X-linked epilepsy with learning disability and behavior disorder syndrome 717223008
- X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome 1167372000
- X-linked hereditary sensory and autonomic neuropathy with deafness 719838008
- X-linked hydrocephalus syndrome 71779008
- X-linked hyper-IgM syndrome 403835002
- X-linked ichthyosis with steryl-sulfatase deficiency 72523005
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 711481001
- X-linked intellectual disability Abidi type 719018008
- X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome 719155005
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome 719157002
- X-linked intellectual disability Armfield type 719017003
- X-linked intellectual disability Cabezas type 719811001
- X-linked intellectual disability Cantagrel type 719016007
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability due to GRIA3 mutations 783702009
- X-linked intellectual disability Hedera type 726727003
- X-linked intellectual disability hypotonic face syndrome 1156584007
- X-linked intellectual disability Miles Carpenter type 719012009
- X-linked intellectual disability Nascimento type 726732002
- X-linked intellectual disability Pai type 719011002
- X-linked intellectual disability Schimke type 719010001
- X-linked intellectual disability Seemanova type 718897009
- X-linked intellectual disability Shrimpton type 718905007
- X-linked intellectual disability Siderius type 718908009
- X-linked intellectual disability Stevenson type 718909001
- X-linked intellectual disability Stocco Dos Santos type 718910006
- X-linked intellectual disability Stoll type 718911005
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability with ataxia and apraxia syndrome 718845002
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 719138006
- X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome 719156006
- X-linked intellectual disability with marfanoid habitus 422437002
- X-linked intellectual disability with plagiocephaly syndrome 719812008
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome 773587008
- X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
- X-linked intellectual disability, macrocephaly, macroorchidism syndrome 719825000
- X-linked intellectual disability, short stature, overweight syndrome 1255335006
- X-linked lissencephaly with abnormal genitalia syndrome 717632002
- X-linked lymphoproliferative syndrome 77121009
- X-linked mandibulofacial dysostosis 719813003
- X-linked mendelian susceptibility to mycobacterial disease 719814009
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome 1197588008
- X-linked myopathy with excessive autophagy 719815005
- X-linked myopathy with postural muscle atrophy 773729007
- X-linked neurodegenerative syndrome Bertini type 718849008
- X-linked neurodegenerative syndrome Hamel type 718847005
- X-linked non progressive cerebellar ataxia 766818009
- X-linked osteoporosis with fractures 782785002
- X-linked parkinsonism with spasticity syndrome 770757004
- X-linked progressive cerebellar ataxia 827172005
- X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome 718896000
- X-linked recessive sensory neuropathy 230556005
- X-linked retinal dysplasia 715240000
- X-linked severe congenital neutropenia 718882006
- X-linked spastic paraplegia type 16 783697000
- X-linked spastic paraplegia type 2 723622007
- X-linked spastic paraplegia type 34 763370008
- X-linked spasticity, intellectual disability, epilepsy syndrome 725163002
- X-linked spinocerebellar ataxia type 3 719817002
- X-linked spinocerebellar ataxia type 4 719818007
- X-linked spondyloepimetaphyseal dysplasia 770603000
- X-linked thrombocytopenia with normal platelets 1156838007
- Xp22.13p22.2 duplication syndrome 782877002
- Xq12-q13.3 duplication syndrome 764711007
|
Quick, Current, Complete - www.findacode.com