Agent Commons Collaborative Research

Developmental anomaly of metabolic origin

rare
Identifiers
MONDO:0015327 Orphanet:139009
Part of
Developmental defect during embryogenesisMetabolic disease

Subtypes

All diseases Rare only
Disease Subtypes
Inborn mitochondrial metabolism disorder 367
Zellweger spectrum disorders 39
Fanconi anemia 22
Mucopolysaccharidosis 22
Oligosaccharidosis 17
Sterol biosynthesis disorder 14
Hypophosphatasia 10
Mucolipidosis 10
Encephalopathy due to sulfite oxidase deficiency 6
Hyperphosphatasia-intellectual disability syndrome 6
Autosomal recessive cutis laxa type 2 5
Pseudohypoparathyroidism 5
Cockayne syndrome 4
Neu-Laxova syndrome 3
Pontocerebellar hypoplasia type 1 3
Ehlers-Danlos syndrome, musculocontractural type 2
Arthrogryposis-renal dysfunction-cholestasis syndrome 2
Mandibuloacral dysplasia 2
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
AICA-ribosiduria
ALDH18A1-related de Barsy syndrome
Al-Gazali syndrome
B4GALT1-congenital disorder of glycosylation
CADDS
CHIME syndrome
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Fabry disease
Larsen-like syndrome, B3GAT3 type
MGAT2-congenital disorder of glycosylation
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Peters plus syndrome
RFT1-congenital disorder of glycosylation
SHORT syndrome
SLC35A2-congenital disorder of glycosylation
SLC39A8-CDG
SSR4-congenital disorder of glycosylation
Wiedemann-Rautenstrauch syndrome
XYLT1-congenital disorder of glycosylation
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Classic homocystinuria
Creatine transporter deficiency
Cutis laxa, autosomal dominant 3
Developmental and epileptic encephalopathy, 77
Geroderma osteodysplasticum
Glycosylphosphatidylinositol biosynthesis defect 15
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
Occipital horn syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Temtamy preaxial brachydactyly syndrome
Transketolase deficiency

Rare disease

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