TaoMedAI/RareMedData huggingface dataset:
Gene: VPS33A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Absent speech (HP:0001344)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Absent speech (HP:0001344)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Macroglossia (HP:0000158)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Nephritis (HP:0000123)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Large forehead (HP:0002003)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Urinary glycosaminoglycan excretion (HP:0003541)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Hernia (HP:0100790)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Thickened skin (HP:0001072)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Thickened skin (HP:0001072)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Nystagmus (HP:0000639)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Anemia (HP:0001903)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Anemia (HP:0001903)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Synophrys (HP:0000664)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Short nose (HP:0003196)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Stridor (HP:0010307)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Epicanthus (HP:0000286)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Full cheeks (HP:0000293)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)