ICD-10: Q80.4

chromosome 19q13.11 deletion syndrome chromosome 1p36 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 4q21 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome chromosome 16p11.2 duplication syndrome chromosome 16p13.3 duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q21.31 duplication syndrome chromosome 22q13 duplication syndrome Cole-Carpenter syndrome epithelial-stromal TGFBI dystrophy Kabuki syndrome MEDNIK syndrome Mowat-Wilson syndrome Pitt-Hopkins syndrome Barber-Say syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 2 Nance-Horan syndrome ethylmalonic encephalopathy fetal encasement syndrome lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 autosomal recessive congenital ichthyosis 4B restrictive dermopathy congenital diarrhea hypomyelinating leukodystrophy 13 Prieto syndrome Christianson syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Pierson syndrome Potocki-Lupski syndrome acromelic frontonasal dysostosis mitochondrial complex III deficiency nuclear type 2 acrofacial dysostosis Cincinnati type Vici syndrome mandibulofacial dysostosis with alopecia Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VII acrofacial dysostosis orofaciodigital syndrome XI orofaciodigital syndrome IX acrofacial dysostosis Rodriguez type acrofacial dysostosis, Catania type acrofacial dysostosis, Patagonia type chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome monogenic disease obsolete genetic disorder lacrimoauriculodentodigital syndrome 1 Usher syndrome Farber lipogranulomatosis erythrokeratodermia variabilis Donohue syndrome Netherton syndrome nonphotosensitive trichothiodystrophy 4 congenital adrenal insufficiency obsolete Majewski syndrome spondylocostal dysostosis congenital disorder of glycosylation type I congenital disorder of glycosylation type II cranioectodermal dysplasia ABCD syndrome acheiropody Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 obsolete anonychia congenita Baller-Gerold syndrome Bart-Pumphrey syndrome bestrophinopathy Bjornstad syndrome branchiooculofacial syndrome fetal alcohol spectrum disorder electroclinical syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency AGAT deficiency cerebral folate receptor alpha deficiency ornithine translocase deficiency PHGDH deficiency PSPH deficiency tyrosinemia type II glycogen metabolism disorder Chanarin-Dorfman syndrome X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease ARC syndrome midface dysplasia rapadilino syndrome Meckel syndrome obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome peroxisomal acyl-CoA oxidase deficiency guanidinoacetate methyltransferase deficiency mucopolysaccharidosis IX biotin deficiency urofacial syndrome pyrimidine metabolic disorder CHARGE syndrome Marshall-Smith syndrome Koolen de Vries syndrome triosephosphate isomerase deficiency recombinase activating gene 1 deficiency GABA aminotransferase deficiency succinic semialdehyde dehydrogenase deficiency acrofrontofacionasal dysostosis Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 combined oxidative phosphorylation deficiency omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant autosomal recessive intellectual developmental disorder mitochondrial complex V (ATP synthase) deficiency nuclear type 4 CEDNIK syndrome ciliopathy