ICD-10: E75.24

obsolete genetic disorder congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital generalized lipodystrophy anauxetic dysplasia 1 PHGDH deficiency PSAT deficiency PSPH deficiency glycogen metabolism disorder Chanarin-Dorfman syndrome X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease adenylosuccinase lyase deficiency choreaacanthocytosis cerebral creatine deficiency syndrome Kahrizi syndrome hemidystonia triosephosphate isomerase deficiency non-syndromic intellectual disability spastic ataxia 2 janus kinase-3 deficiency organic acidemia renal-hepatic-pancreatic dysplasia autosomal recessive intellectual developmental disorder CEDNIK syndrome Vici syndrome hereditary neuropathy with liability to pressure palsies Niemann-Pick disease chromosome 10q23 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.1 deletion syndrome MEDNIK syndrome ataxia with oculomotor apraxia type 3 Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 1 WHIM syndrome 1 congenital chylothorax syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type X-linked intellectual disability-psychosis-macroorchidism syndrome