ICD-10: Q99

lacrimoauriculodentodigital syndrome 1 campomelic dysplasia Alstrom syndrome obsolete acroosteolysis Gamstorp-Wohlfart syndrome nonphotosensitive trichothiodystrophy 4 obsolete epidermal nevus obsolete SC phocomelia syndrome X-linked sideroblastic anemia with ataxia Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 obsolete anonychia congenita distal arthrogryposis Bart-Pumphrey syndrome Bowen-Conradi syndrome brachyolmia ornithine translocase deficiency Y-linked monogenic disease obsolete Opitz-GBBB syndrome iridogoniodysgenesis syndrome pontocerebellar hypoplasia type 1A oculodentodigital dysplasia CEDNIK syndrome hypoparathyroidism-retardation-dysmorphism syndrome Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VII orofaciodigital syndrome XI orofaciodigital syndrome IX acrofacial dysostosis, Catania type chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 1p36 deletion syndrome syndromic intellectual disability ameloblastoma medulloblastoma striated muscle rhabdoid tumor spastic ataxia 4 spinocerebellar ataxia type 15 spinocerebellar ataxia type 17 spinocerebellar ataxia type 38 episodic ataxia type 1 episodic ataxia type 3 episodic ataxia type 7 nonprogressive cerebellar ataxia with mental retardation interleukin-7 receptor alpha deficiency reticular dysgenesis Kennedy's disease Baraitser-Winter syndrome synpolydactyly MASA syndrome Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 17q12 duplication syndrome chromosome 22q11.2 microduplication syndrome chromosome 22q13 duplication syndrome stromal dystrophy chromosome 2q31.1 duplication syndrome Desbuquois dysplasia humeroradial synostosis MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Yunis-Varon syndrome neonatal diabetes mellitus with congenital hypothyroidism lethal congenital contracture syndrome 4 Muenke Syndrome autosomal dominant Robinow syndrome 3 Miles-Carpenter syndrome Christianson syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome Griscelli syndrome type 1 Pierson syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 2