TaoMedAI/RareMedData huggingface dataset:
Gene: CCDC134
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Gene: CCDC134
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Gene: CCDC134
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Gene: CCDC134
Phenotype: Decreased circulating osteocalcin level (HP:0031429)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Gene: CCDC134
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Gene: CCDC134
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CCDC134
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC134
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC134
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CCDC134
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ZC3H14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 (OMIM:617125)
Gene: ZC3H14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 (OMIM:617125)
Gene: NUP85
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Short stature (HP:0004322)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP85
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: NUP85
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Gene: NUP85
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NAA60
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Anarthria (HP:0002425)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Motor delay (HP:0001270)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Hypotonia (HP:0001252)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Ataxia (HP:0001251)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Dysphagia (HP:0002015)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Migraine (HP:0002076)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Infantile onset (HP:0003593)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Tetraparesis (HP:0002273)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Gene: NAA60
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: NAA60
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)