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Up to: Metabolic disease · Developmental defect during embryogenesis

Developmental anomaly of metabolic origin

0 trials tagged with this condition →

Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types Sub-types →
Fabry disease 64 trials
Mucopolysaccharidosis 14 trials · 61 incl. sub-types Sub-types →
Sterol biosynthesis disorder 0 trials · 45 incl. sub-types Sub-types →
Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
Hypophosphatasia 13 trials Sub-types →
Oligosaccharidosis 0 trials · 11 incl. sub-types Sub-types →
Pseudohypoparathyroidism 8 trials · 9 incl. sub-types Sub-types →
Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
Cockayne syndrome 6 trials Sub-types →
Creatine transporter deficiency 6 trials
Mucolipidosis 4 trials · 5 incl. sub-types 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 Sub-types →
Occipital horn syndrome 1 trial
Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
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 Sub-types →
Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
Larsen-like syndrome, B3GAT3 type 0 trials
MGAT2-congenital disorder of glycosylation 0 trials
Neu-Laxova syndrome 0 trials Sub-types →
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 Sub-types →
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 Sub-types →
Mandibuloacral dysplasia 0 trials Sub-types →
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 Sub-types →
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
Temtamy preaxial brachydactyly syndrome 0 trials
Transketolase deficiency 0 trials