TaoMedAI/RareMedData huggingface dataset:
Gene: NEK2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NEK2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEK2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NEU1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Motor delay (HP:0001270)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Seizure (HP:0001250)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Seizure (HP:0001250)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Ataxia (HP:0001251)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Ataxia (HP:0001251)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Spasticity (HP:0001257)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Urinary excretion of sialylated oligosaccharides (HP:0012061)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Urinary excretion of sialylated oligosaccharides (HP:0012061)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Slurred speech (HP:0001350)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Tremor (HP:0001337)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Reduced tissue neuraminidase activity (HP:6000911)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Increased urinary O-linked sialopeptides (HP:0003461)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Increased urinary O-linked sialopeptides (HP:0003461)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Hernia (HP:0100790)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Short stature (HP:0004322)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEU1
Phenotype: Visceromegaly (HP:0003271)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Short thorax (HP:0010306)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Edema (HP:0000969)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Petechiae (HP:0000967)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Facial edema (HP:0000282)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Gene: NEU1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Normomorphic sialidosis; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Sialidosis type 1 (ORPHA:812)
Gene: NEU1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)
Gene: NEU1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEU1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Juvenile sialidosis type 2 (ORPHA:93399)
Gene: NEU1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Congenital sialidosis type 2 (ORPHA:93400)