ICD-10: Z13.7

lacrimoauriculodentodigital syndrome 1 Danon disease Gitelman syndrome Muir-Torre syndrome Loeys-Dietz syndrome Netherton syndrome Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type X congenital disorder of glycosylation type I congenital disorder of glycosylation type II L-2-hydroxyglutaric aciduria occult macular dystrophy muscular dystrophy-dystroglycanopathy type B1 Allan-Herndon-Dudley syndrome Baller-Gerold syndrome Beare-Stevenson cutis gyrata syndrome Birt-Hogg-Dube syndrome Athabaskan brainstem dysgenesis syndrome cell type cancer Brooke-Spiegler syndrome ornithine translocase deficiency methylmalonic aciduria and homocystinuria type cblE autosomal genetic disease ataxia with oculomotor apraxia type 1 Meckel syndrome Koolen de Vries syndrome triosephosphate isomerase deficiency spinocerebellar ataxia type 8 spinocerebellar ataxia type 11 spinocerebellar ataxia type 15 spinocerebellar ataxia type 18 spinocerebellar ataxia type 27 spinocerebellar ataxia type 34 episodic ataxia type 7 janus kinase-3 deficiency MHC class I deficiency reticular dysgenesis familial juvenile hyperuricemic nephropathy Kennedy's disease acrofrontofacionasal dysostosis Adams-Oliver syndrome Warburg micro syndrome Van Maldergem syndrome Simpson-Golabi-Behmel syndrome type 1 pontocerebellar hypoplasia type 2B combined oxidative phosphorylation deficiency Ohdo syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 4 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation acrofacial dysostosis Cincinnati type Galloway-Mowat syndrome 1 mandibulofacial dysostosis with alopecia acrofacial dysostosis orofaciodigital syndrome XI chondrodysplasia Blomstrand type chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 22q11.2 deletion syndrome, distal 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 17q12 duplication syndrome chromosome 1q21.1 duplication syndrome chromosome 22q11.2 microduplication syndrome Schnyder corneal dystrophy chromosome 5p13 duplication syndrome EAST syndrome lethal congenital contracture syndrome 1 Holzgreve-Wagner-Rehder Syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 2 3MC syndrome 2 Yunis-Varon syndrome WHIM syndrome 1 lethal congenital contracture syndrome 3 autosomal recessive Robinow syndrome autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 3 cleft lip-palate-ectodermal dysplasia syndrome syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 7 Miles-Carpenter syndrome Christianson syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Leri-Weill dyschondrosteosis Potocki-Lupski syndrome autosomal recessive pseudohypoaldosteronism type 1 patterned macular dystrophy 3 adenine phosphoribosyltransferase deficiency