TaoMedAI/RareMedData huggingface dataset:
Gene: ANAPC1
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Abnormality of the radial head (HP:0003995)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Diarrhea (HP:0002014)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Vomiting (HP:0002013)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Finger symphalangism (HP:0009700)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Facial erythema (HP:0001041)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Porokeratosis (HP:0200044)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Bone fracture (HP:0020110)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Leukemia (HP:0001909)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Anemia (HP:0001903)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Conical tooth (HP:0000698)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Microdontia (HP:0000691)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Carious teeth (HP:0000670)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Short stature (HP:0004322)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Short stature (HP:0004322)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Multiple skeletal anomalies (HP:0005775)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Osteopenia (HP:0000938)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Sparse hair (HP:0008070)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Facial edema (HP:0000282)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Melanoma (HP:0002861)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Growth delay (HP:0001510)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Genu varum (HP:0002970)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Thin nail (HP:0001816)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: TMPRSS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
Gene: TMPRSS3
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
Gene: TMPRSS3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
Gene: TMPRSS3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
Gene: HS3ST6
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Swollen lip (HP:0031244)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Diarrhea (HP:0002014)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: HS3ST6
Phenotype: Facial edema (HP:0000282)
Associated disease: ANGIOEDEMA, HEREDITARY, 8 (OMIM:619367)
Gene: MICAL1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Deja vu aura (HP:0012005)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Middle age onset (HP:0003596)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal sensory seizure with cephalic sensation (HP:0032810)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal aware sensory seizure with auditory features (HP:0032864)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal sensory seizure with vestibular features (HP:0032759)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal sensory seizure with auditory features (HP:0011158)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal sensory seizure with olfactory features (HP:0011161)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: MICAL1
Phenotype: Focal automatism seizure (HP:0032898)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: EPS8L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 106 (OMIM:617637)
Gene: EPS8L2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 106 (OMIM:617637)
Gene: LMF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Tuberous xanthoma (HP:0031290)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: LMF1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Gene: ARV1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Poor suck (HP:0002033)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Aspiration (HP:0002835)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: ARV1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Gene: NMNAT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NMNAT1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: NMNAT1
Phenotype: Macular coloboma (HP:0001116)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Macular coloboma (HP:0001116)
Associated disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Gene: NMNAT1
Phenotype: Ultra-low vision with retained light perception (HP:0032286)
Associated disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Gene: NMNAT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NMNAT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NMNAT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Gene: NMNAT1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NMNAT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NMNAT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NMNAT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)