developmental anomaly of metabolic origin

Findings

No curated finding names developmental anomaly of metabolic origin yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• developmental defect during embryogenesis
• metabolic disease

Narrower terms (57)

• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• AICA-ribosiduria
• Al-Gazali syndrome
• ALDH18A1-related de Barsy syndrome
• arthrogryposis-renal dysfunction-cholestasis syndrome
• autism spectrum disorder - epilepsy - arthrogryposis syndrome
• autosomal recessive cutis laxa type 2
• B4GALT1-congenital disorder of glycosylation
• CADDS
• CHIME syndrome
• classic homocystinuria
• Cockayne syndrome
• COG1-congenital disorder of glycosylation
• COG7-congenital disorder of glycosylation
• creatine transporter deficiency
• cutis laxa, autosomal dominant 3
• developmental and epileptic encephalopathy, 77
• Ehlers-Danlos syndrome, musculocontractural type
• Ehlers-Danlos syndrome, spondylodysplastic type
• encephalopathy due to sulfite oxidase deficiency
• Fabry disease
• Fanconi anemia
• glycosylphosphatidylinositol biosynthesis defect 15
• hyperphosphatasia-intellectual disability syndrome
• hypophosphatasia
• inborn mitochondrial metabolism disorder
• Larsen-like syndrome, B3GAT3 type
• mandibuloacral dysplasia
• MGAT2-congenital disorder of glycosylation
• mucolipidosis
• mucopolysaccharidosis
• mucopolysaccharidosis-plus syndrome
• mucosulfatidosis
• multiple congenital anomalies-hypotonia-seizures syndrome 1
• multiple congenital anomalies-hypotonia-seizures syndrome 2
• multiple congenital anomalies-hypotonia-seizures syndrome 3
• Neu-Laxova syndrome
• Nijmegen breakage syndrome
• Nijmegen breakage syndrome-like disorder
• occipital horn syndrome
• oligosaccharidosis
• permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
• Peters plus syndrome
• pontocerebellar hypoplasia type 1
• progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
• pseudohypoparathyroidism
• RFT1-congenital disorder of glycosylation
• SHORT syndrome
• SLC35A2-congenital disorder of glycosylation
• SLC39A8-CDG
• SSR4-congenital disorder of glycosylation
• sterol biosynthesis disorder
• temtamy preaxial brachydactyly syndrome
• transketolase deficiency
• Wiedemann-Rautenstrauch syndrome
• XYLT1-congenital disorder of glycosylation
• Zellweger spectrum disorders