Developmental anomaly of metabolic origin

Part of

Sub-types of Developmental anomaly of metabolic origin

• Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types
  14 sub-types

  • Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types Sub-types →
  • Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types Sub-types →
  • Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
  • Histiocytoid cardiomyopathy 3 trials Sub-types →
  • Fumaric aciduria 2 trials
  • OPA1-related optic atrophy with or without extraocular features 1 trial Sub-types →
  • Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
  • Multiple acyl-CoA dehydrogenase deficiency 1 trial Sub-types →
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
  • HSD10 mitochondrial disease 0 trials Sub-types →
  • Hypotonia-cystinuria syndrome 0 trials Sub-types →
  • Mitochondrial membrane transport disorder 0 trials Sub-types →
  • Mitochondrial pyruvate carrier deficiency 0 trials
  • Oxoglutaricaciduria 0 trials
• Fabry disease 64 trials
• Mucopolysaccharidosis 14 trials · 62 incl. sub-types
  8 sub-types

  • Mucopolysaccharidosis type 2 25 trials Sub-types →
  • Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 1 11 trials · 16 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 6 8 trials Sub-types →
  • Mucopolysaccharidosis type 7 8 trials
  • Mucopolysaccharidosis type 9 1 trial
  • Mucopolysaccharidosis, type 10 0 trials
• Sterol biosynthesis disorder 0 trials · 45 incl. sub-types
  7 sub-types

  • CHILD syndrome 37 trials
  • Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types Sub-types →
  • Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
  • Greenberg dysplasia 2 trials
  • X-linked chondrodysplasia punctata 1 trial Sub-types →
  • MEND syndrome 0 trials
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 0 trials
• Fanconi anemia 29 trials · 42 incl. sub-types
  22 sub-types

  • Fanconi anemia complementation group D1 6 trials
  • Fanconi anemia complementation group A 4 trials
  • Fanconi anemia complementation group E 4 trials
  • Fanconi anemia complementation group N 2 trials
  • Fanconi anemia, complementation group S 2 trials
  • Fanconi anemia complementation group B 0 trials
  • Fanconi anemia complementation group C 0 trials
  • Fanconi anemia complementation group D2 0 trials
  • Fanconi anemia complementation group F 0 trials
  • Fanconi anemia complementation group G 0 trials
  • Fanconi anemia complementation group I 0 trials
  • Fanconi anemia complementation group J 0 trials
  • Fanconi anemia complementation group L 0 trials
  • Fanconi anemia complementation group O 0 trials
  • Fanconi anemia complementation group P 0 trials
  • Fanconi anemia complementation group Q 0 trials
  • Fanconi anemia complementation group R 0 trials
  • Fanconi anemia complementation group T 0 trials
  • Fanconi anemia complementation group U 0 trials
  • Fanconi anemia complementation group V 0 trials
  • Fanconi anemia, complementation group W 0 trials
  • Fanconi anemia, complementation group 10 0 trials
• Hypophosphatasia 13 trials
  8 sub-types

  • ALPL-related autosomal dominant hypophosphatasia 0 trials Sub-types →
  • ALPL-related autosomal recessive hypophosphatasia 0 trials Sub-types →
  • Adult hypophosphatasia 0 trials
  • Childhood hypophosphatasia 0 trials
  • Infantile hypophosphatasia 0 trials
  • Moderate hypophosphatasia 0 trials
  • Odontohypophosphatasia 0 trials
  • Prenatal benign hypophosphatasia 0 trials
• Oligosaccharidosis 0 trials · 11 incl. sub-types
  7 sub-types

  • Alpha-mannosidosis 5 trials Sub-types →
  • Aspartylglucosaminuria 4 trials
  • Fucosidosis 2 trials
  • Galactosialidosis 2 trials
  • Sialidosis 1 trial · 2 incl. sub-types Sub-types →
  • Alpha-N-acetylgalactosaminidase deficiency 0 trials Sub-types →
  • Beta-mannosidosis 0 trials
• Pseudohypoparathyroidism 8 trials · 9 incl. sub-types
  5 sub-types

  • Pseudohypoparathyroidism type 1A 7 trials
  • Pseudopseudohypoparathyroidism 2 trials
  • Pseudohypoparathyroidism type 1B 0 trials
  • Pseudohypoparathyroidism type 1C 0 trials
  • Pseudohypoparathyroidism type 2 0 trials
• Zellweger spectrum disorders 6 trials · 7 incl. sub-types
  15 sub-types

  • Peroxisome biogenesis disorder due to PEX1 defect 0 trials · 1 incl. sub-types Sub-types →
  • Peroxisome biogenesis disorder 9B 0 trials
  • Peroxisome biogenesis disorder due to PEX10 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX11B defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX12 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX13 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX14 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX16 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX19 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX2 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX26 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX3 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX5 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder due to PEX6 defect 0 trials Sub-types →
  • Peroxisome biogenesis disorder, complementation group 2 0 trials
• Cockayne syndrome 6 trials
  4 sub-types

  • Cockayne spectrum with or without cerebrooculofacioskeletal syndrome 0 trials
  • Cockayne syndrome type 1 0 trials
  • Cockayne syndrome type 2 0 trials
  • Cockayne syndrome type 3 0 trials
• Creatine transporter deficiency 6 trials
• Mucolipidosis 4 trials · 5 incl. sub-types
  2 sub-types

  • Familial mucolipidosis 0 trials · 5 incl. sub-types Sub-types →
  • GNPTAB-mucolipidosis 0 trials Sub-types →
• Classic homocystinuria 4 trials
• Mucosulfatidosis 4 trials
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
• AICA-ribosiduria 1 trial
• Nijmegen breakage syndrome 1 trial
• SLC35A2-congenital disorder of glycosylation 1 trial
• Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial
  2 sub-types

  • Arthrogryposis, renal dysfunction, and cholestasis 1 0 trials
  • Arthrogryposis, renal dysfunction, and cholestasis 2 0 trials
• Occipital horn syndrome 1 trial
• Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types
  2 sub-types

  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Isolated sulfite oxidase deficiency 0 trials
• ALDH18A1-related de Barsy syndrome 0 trials
• Al-Gazali syndrome 0 trials
• B4GALT1-congenital disorder of glycosylation 0 trials
• CADDS 0 trials
• CHIME syndrome 0 trials
• COG1-congenital disorder of glycosylation 0 trials
• COG7-congenital disorder of glycosylation 0 trials
• Ehlers-Danlos syndrome, musculocontractural type 0 trials
  2 sub-types

  • Ehlers-Danlos syndrome, musculocontractural type 1 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 2 0 trials
• Ehlers-Danlos syndrome, spondylodysplastic type 0 trials
  3 sub-types

  • Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 trials
• Larsen-like syndrome, B3GAT3 type 0 trials
• MGAT2-congenital disorder of glycosylation 0 trials
• Neu-Laxova syndrome 0 trials
  3 sub-types

  • Neu-Laxova syndrome 1 0 trials
  • Neu-Laxova syndrome 2 0 trials
  • Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 0 trials
• Nijmegen breakage syndrome-like disorder 0 trials
• Peters plus syndrome 0 trials
• RFT1-congenital disorder of glycosylation 0 trials
• SHORT syndrome 0 trials
• SLC39A8-CDG 0 trials
• SSR4-congenital disorder of glycosylation 0 trials
• Wiedemann-Rautenstrauch syndrome 0 trials
• XYLT1-congenital disorder of glycosylation 0 trials
• Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 trials
• Autosomal recessive cutis laxa type 2 0 trials
  4 sub-types

  • Autosomal recessive cutis laxa type 2A 0 trials Sub-types →
  • Autosomal recessive cutis laxa type 2B 0 trials
  • Autosomal recessive cutis laxa type 2C 0 trials
  • Autosomal recessive cutis laxa type 2D 0 trials
• Cutis laxa, autosomal dominant 3 0 trials
• Developmental and epileptic encephalopathy, 77 0 trials
• Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
• Hyperphosphatasia-intellectual disability syndrome 0 trials
  6 sub-types

  • Hyperphosphatasia with intellectual disability syndrome 1 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 2 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 3 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 4 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 5 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 6 0 trials
• Mandibuloacral dysplasia 0 trials
  2 sub-types

  • Mandibuloacral dysplasia with type A lipodystrophy 0 trials
  • Mandibuloacral dysplasia with type B lipodystrophy 0 trials
• Mucopolysaccharidosis-plus syndrome 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 trials
• Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
• Pontocerebellar hypoplasia type 1 0 trials
  3 sub-types

  • Pontocerebellar hypoplasia type 1A 0 trials
  • Pontocerebellar hypoplasia type 1B 0 trials
  • Pontocerebellar hypoplasia, type 1C 0 trials
• Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
• Temtamy preaxial brachydactyly syndrome 0 trials
• Transketolase deficiency 0 trials