ICD-10: E75.243

Van Maldergem syndrome rippling muscle disease 2 renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia pontocerebellar hypoplasia type 3 combined oxidative phosphorylation deficiency omodysplasia Ohdo syndrome oculodentodigital dysplasia autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 CEDNIK syndrome acrorenal syndrome Vici syndrome punctate palmoplantar keratoderma glycerol kinase deficiency Hennekam syndrome chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q11.2 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 duplication syndrome stromal dystrophy chromosome 5p13 duplication syndrome Desbuquois dysplasia fibrochondrogenesis MEDNIK syndrome EAST syndrome lethal congenital contracture syndrome 2 3MC syndrome 3 WHIM syndrome 1 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum alpha-methylacyl-CoA racemase deficiency permanent neonatal diabetes mellitus lethal congenital contracture syndrome 4 congenital diarrhea hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 13 hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Chudley-Schwartz type syndromic X-linked intellectual disability 14 Christianson syndrome Griscelli syndrome type 2 Pierson syndrome patterned macular dystrophy 2 Danon disease familial partial lipodystrophy Farber lipogranulomatosis Donohue syndrome Netherton syndrome hypermethioninemia proteasome-associated autoinflammatory syndrome 1 congenital disorder of glycosylation type I congenital disorder of glycosylation type II occult macular dystrophy glycogen storage disease XV congenital generalized lipodystrophy muscular dystrophy-dystroglycanopathy type B1 ABCD syndrome ADULT syndrome acrodermatitis enteropathica Allan-Herndon-Dudley syndrome Finnish type amyloidosis anauxetic dysplasia 1 obsolete anonychia congenita atransferrinemia bestrophinopathy Bjornstad syndrome Boomerang dysplasia electroclinical syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency AGAT deficiency vitamin metabolic disorder cerebral folate receptor alpha deficiency ornithine translocase deficiency serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type III Chanarin-Dorfman syndrome coenzyme Q10 deficiency disease congenital intrinsic factor deficiency X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease cerebellar ataxia ataxia with oculomotor apraxia type 1 obsolete CLN3 disease deafness-dystonia-optic neuronopathy syndrome adenylosuccinase lyase deficiency ARC syndrome midface dysplasia spastic ataxia 1 rapadilino syndrome schneckenbecken dysplasia non-syndromic X-linked intellectual disability achalasia microcephaly syndrome cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome mucopolysaccharidosis IX urofacial syndrome pyrimidine metabolic disorder orotic aciduria Perrault syndrome triosephosphate isomerase deficiency IMAGe syndrome syndromic intellectual disability non-syndromic intellectual disability spastic ataxia 2 spastic ataxia 3 spastic ataxia 7 spastic ataxia X-linked hereditary ataxia hypomyelinating leukoencephalopathy nonprogressive cerebellar ataxia with mental retardation autosomal recessive spinocerebellar ataxia 10 CD3zeta deficiency janus kinase-3 deficiency MHC class I deficiency recombinase activating gene 1 deficiency recombinase activating gene 2 deficiency coronin-1A deficiency reticular dysgenesis CD40 ligand deficiency delta chain disease organic acidemia dentatorubral-pallidoluysian atrophy GABA aminotransferase deficiency Carpenter syndrome D-mannitol allergy obsolete carbohydrate metabolism disease monogenic disease obsolete complex genetic disease selective IgM deficiency disease obsolete genetic disorder obsolete peripheral dysostosis complement factor I deficiency