TaoMedAI/RareMedData huggingface dataset:
Gene: GALK1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Premature birth (HP:0001622)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Cataract (HP:0000518)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Cataract (HP:0000518)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALNS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Motor delay (HP:0001270)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Pointed proximal second through fifth metacarpals (HP:0001223)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Chondroitin sulfate excretion in urine (HP:0012070)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Coxa valga (HP:0002673)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Wide mouth (HP:0000154)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Cervical subluxation (HP:0003308)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Grayish enamel (HP:0000683)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Carious teeth (HP:0000670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Epiphyseal deformities of tubular bones (HP:0003053)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Prominent sternum (HP:0000884)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Large elbow (HP:0030865)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Constricted iliac wing (HP:0003277)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVA (OMIM:253000)
Gene: GALNS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Decreased serum creatinine (HP:0012101)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Constipation (HP:0002019)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Insomnia (HP:0100785)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Small hand (HP:0200055)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Pineal cyst (HP:0012683)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (OMIM:618885)
Gene: GALNT2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GALNT2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GALNT2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)