TaoMedAI/RareMedData huggingface dataset:
Gene: EVC2
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Mild short stature (HP:0003502)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Mild short stature (HP:0003502)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Small hand (HP:0200055)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Short palm (HP:0004279)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Conical tooth (HP:0000698)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Conical tooth (HP:0000698)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Natal tooth (HP:0000695)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Microdontia (HP:0000691)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Short long bone (HP:0003026)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Short ribs (HP:0000773)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Common atrium (HP:0011565)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Short thorax (HP:0010306)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Abnormal alveolar ridge morphology (HP:0006477)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Conical incisor (HP:0011065)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Small nail (HP:0001792)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Small nail (HP:0001792)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL31RA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 (OMIM:613955)
Gene: IL31RA
Phenotype: Pruritus (HP:0000989)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 (OMIM:613955)
Gene: IL31RA
Phenotype: Cutaneous amyloidosis (HP:0012309)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 (OMIM:613955)
Gene: NADK2
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Reduced liver 2,4-dienoyl-CoA reductase activity (HP:0034919)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Reduced muscle 2,4-dienoyl-CoA reductase activity (HP:0034918)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Abnormal circulating carnitine concentration (HP:0010967)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Poor head control (HP:0002421)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Seizure (HP:0001250)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Seizure (HP:0001250)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Ataxia (HP:0001251)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Spasticity (HP:0001257)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Increased CSF lysine concentration (HP:0500208)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Death in childhood (HP:0003819)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Dystonia (HP:0001332)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Dystonia (HP:0001332)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Poor suck (HP:0002033)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Clonus (HP:0002169)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
Gene: NADK2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; Progressive encephalopathy with leukodystrophy due to DECR deficiency (ORPHA:431361)
Gene: NADK2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)