News / Updates
The IEMbase is celebrating it's 10th anniversary!
Number of disorders (30.09.2024): 1,956
Diseases added
20.09.2024 - Capicua deficiency (CIC)
25.08.2024 - Short stature, microcephaly, and endocrine dysfunction (XRCC4)
25.08.2024 - Wolfram syndrome 1 (WFS1)
25.08.2024 - CAKUT and VACTERL association (TRAP1)
25.08.2024 - Garg-Mishra progeroid syndrome (TOMM7)
25.08.2024 - Combined oxidative phosphorylation deficiency 58 (TEFM)
25.08.2024 - Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline (SLC44A1)
25.08.2024 - Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
25.08.2024 - Moyamoya disease 2 (RNF213)
25.08.2024 - Encephalopathy, acute, infection-induced, 3 (RANBP2)
25.08.2024 - Severe Infantile Metabolic Disorder Affecting Mitochondrial Function Leight-like (PYROXD2)
25.08.2024 - Corneal dystrophy, punctiform and polychromatic pre-Descemet (PRDX3)
25.08.2024 - Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (P4HTM)
25.08.2024 - Premature ovarian insufficiency (MRPL50)
25.08.2024 - Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (MORC2)
25.08.2024 - Optic atrophy 14 (MIEF1)
25.08.2024 - Mitochondrial DNA depletion syndrome 20 (MNGIE type) (LIG3)
25.08.2024 - Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
25.08.2024 - Huntington disease (HTT)
25.08.2024 - Anemia, sideroblastic, 5 (HSCB)
25.08.2024 - Late-onset progressive external ophthalmoplegia (GMPR)
25.08.2024 - Developmental and epileptic encephalopathy 47 (FGF12)
25.08.2024 - Bone marrow failure syndrome 2 (ERCC6L2)
25.08.2024 - Myotonic dystrophy 1 (DMPK)
25.08.2024 - Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
25.08.2024 - Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
25.08.2024 - Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (CTBP1)
25.08.2024 - Wolfram syndrome 2 (CISD2)
25.08.2024 - Neurodegeneration with brain iron accumulation 4 (C19orf12)
25.08.2024 - Dystonia, early-onset, and/or spastic paraplegia (ATP5MC3)
31.07.2024 - Epithelial sodium channel 1 gamma subunit deficiency (SCNN1G)
31.07.2024 - Epithelial sodium channel 1 alpha subunit deficiency (SCNN1A)
31.07.2024 - Phosphopantothenoylcysteine decarboxylase deficiency (PPCDC)
31.07.2024 - Golgin A2 deficiency (GOLGA2)
31.07.2024 - RNU7-1 deficiency
31.07.2024 - LSM11 deficiency
31.07.2024 - Perilipin 4 deficiency (PLIN4)
31.07.2024 - Long-chain fatty acid-CoA ligase 5 deficiency (ACSL5)
31.07.2024 - Mitochondrial ribosomal large subunit 39 deficiency (MRPL39)
31.07.2024 - Onoctamin 6 deficiency (ANO6)
31.07.2024 - ATP112C flippase deficiency
30.07.2024 - Lipolysis-stimulated lipoprotein receptor deficiency (LSR)
30.07.2024 - Onoctamin 6 deficiency (ANO6)
30.07.2024 - ATP112C flippase deficiency
03.05.2024 - DAGLA deficiency
26.04.2024 - RAB33B deficiency
26.04.2024 - RRM1 deficiency