Select item 48441 Rett syndrome Autism, dementia, ataxia, and loss of purposeful hand use Classic Rett Syndrome Rett's disorder Select item 335161 Autism, susceptibility to, X-linked 3 Austism susceptibility, X-linked Autism susceptibility, X-linked 3 Select item 409616 Severe neonatal-onset encephalopathy with microcephaly Encephalopathy, neonatal severe Encephalopathy, neonatal severe, due to MECP2 mutations Select item 337496 Syndromic X-linked intellectual disability Lubs type INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS Mental retardation, X-linked, Lubs type XLMR syndrome, Lubs type Select item 163232 X-linked intellectual disability-psychosis-macroorchidism syndrome INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 PPM-X syndrome Select item 163196 Pseudoaminopterin syndrome Aminopterin syndrome sine aminopterin Select item 280689 Deficiency of acetyl-CoA acetyltransferase 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha-methylacetoaceticaciduria Beta ketothiolase deficiency Ketothiolase Deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency Select item 78692 Deficiency of hydroxymethylglutaryl-CoA lyase 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-hydroxy-3-methylglutaric aciduria Defect in leucine metabolism HMG CoA lyase deficiency HMGCL DEFICIENCY Hydroxymethylglutaric aciduria Select item 781653 HSD10 mitochondrial disease 17 beta-hydroxysteroid dehydrogenase type 10 deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2M3HBA 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 3H2MBD deficiency Chorioathetosis with Mental Retardation and Abnormal Behavior HSD10 deficiency HSD10 disease HSD17B10 DEFICIENCY Hydroxyacyl-CoA dehydrogenase II deficiency Select item 388039 Congenital bile acid synthesis defect 4 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid to cholic acid Select item 82784 Corticosterone 18-monooxygenase deficiency 18 Hydroxylase deficiency 18 alpha hydroxylase deficiency ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE ALDOSTERONE DEFICIENCY I Aldosterone deficiency 1 Aldosterone deficiency due to defect in 18 hydroxylase CMO 1 deficiency CMO I DEFICIENCY Corticosterone methyloxidase type 1 deficiency STEROID 18-HYDROXYLASE DEFICIENCY Select item 483046 Corticosterone methyloxidase type 2 deficiency 18-OXIDASE DEFICIENCY ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE ALDOSTERONE DEFICIENCY II CMO II DEFICIENCY Corticosterone Methyloxidase Type II Deficiency STEROID 18-OXIDASE DEFICIENCY Select item 1798933 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly, congenital cataract, and psoriasiform dermatitis SC4MOL DEFICIENCY Select item 458943 Anti-NMDA receptor encephalitis Limbic encephalitis with NMDA receptor antibodies Select item 82710 Fetal methylmercury syndrome Select item 1843150 HSD10 disease, infantile type Select item 1842355 HSD10 disease, neonatal type Select item 1842381 Inborn disorder of methionine cycle and sulfur amino acid metabolism Select item 1663334 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 
