Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Disease data Classification Malformation syndrome ORPHA code 2643 OMIM code 251190 ICD10 code Q87.1 ICD11 code LD24.D *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl