TaoMedAI/RareMedData huggingface dataset:
Gene: EFTUD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Short stature (HP:0004322)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Short stature (HP:0004322)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Short nose (HP:0003196)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Short nose (HP:0003196)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Mandibulofacial dysostosis (HP:0005321)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Absent tragus (HP:0011268)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFTUD2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Telecanthus (HP:0000506)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Gene: EFTUD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Mandibulofacial dysostosis, Guion-Almeida type; Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome (ORPHA:79113)
Gene: EFTUD2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFTUD2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UBE4A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: UBE4A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Gene: LONP1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Seizure (HP:0001250)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Seizure (HP:0001250)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Ataxia (HP:0001251)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Abnormal medullary pyramid morphology (HP:0025361)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Broad skull (HP:0002682)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Dystonia (HP:0001332)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)