TaoMedAI/RareMedData huggingface dataset:
Gene: NBAS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Broad hallux (HP:0010055)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Achromatopsia (HP:0011516)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Cutis laxa (HP:0000973)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Jaundice (HP:0000952)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Long face (HP:0000276)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Micromelia (HP:0002983)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Short neck (HP:0000470)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Sandal gap (HP:0001852)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Proptosis (HP:0000520)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Myopia (HP:0000545)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIPT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Hyperglutaminuria (HP:0025376)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Dystonia (HP:0001332)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Alaninuria (HP:0020078)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Developmental regression (HP:0002376)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Death in infancy (HP:0001522)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: LIPT1
Phenotype: Bradycardia (HP:0001662)
Associated disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Gene: PIGT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypotonia (HP:0001252)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Ataxia (HP:0001251)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Congenital megaureter (HP:0008676)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hydroureter (HP:0000072)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Downgaze palsy (HP:0025330)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)