ICD-10: Q95.5

chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 16p11.2 duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 duplication syndrome chromosome 17q21.31 duplication syndrome chromosome 5p13 duplication syndrome Kindler syndrome Schimke immuno-osseous dysplasia Barber-Say syndrome Kufor-Rakeb syndrome Char syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 Yunis-Varon syndrome XFE progeroid syndrome Nance-Horan syndrome autosomal dominant Robinow syndrome 3 Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 3 Norrie disease Leri-Weill dyschondrosteosis osteoporosis-pseudoglioma syndrome Potocki-Lupski syndrome monogenic disease obsolete genetic disorder Usher syndrome Loeys-Dietz syndrome brachydactyly ABCD syndrome Baller-Gerold syndrome Beare-Stevenson cutis gyrata syndrome Borjeson-Forssman-Lehmann syndrome brachyolmia PSAT deficiency autosomal dominant disease autosomal recessive disease autosomal genetic disease midface dysplasia spastic ataxia 1 Meckel syndrome Kahrizi syndrome Perrault syndrome fragile X-associated tremor/ataxia syndrome Koolen de Vries syndrome spastic ataxia 4 Charlevoix-Saguenay spastic ataxia spinocerebellar ataxia type 1 spinocerebellar ataxia type 18 episodic ataxia type 1 episodic ataxia type 2 episodic ataxia type 3 Pearson syndrome Adams-Oliver syndrome Baraitser-Winter syndrome Carpenter syndrome omodysplasia Ohdo syndrome CEDNIK syndrome Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome VIII chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb 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 2q31.2 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome