TaoMedAI/RareMedData huggingface dataset:
Gene: INPP5E
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Triangular-shaped open mouth (HP:0200096)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Protruding tongue (HP:0010808)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Nystagmus (HP:0000639)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Nystagmus (HP:0000639)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Nystagmus (HP:0000639)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Photophobia (HP:0000613)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Iris coloboma (HP:0000612)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Truncal obesity (HP:0001956)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Truncal obesity (HP:0001956)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Hyperactivity (HP:0000752)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Self-mutilation (HP:0000742)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Epicanthus (HP:0000286)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Macrocephaly (HP:0000256)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Long face (HP:0000276)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Long face (HP:0000276)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Clinodactyly (HP:0030084)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Microcephaly (HP:0000252)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Central apnea (HP:0002871)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Low-set ears (HP:0000369)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Low-set ears (HP:0000369)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Dextrocardia (HP:0001651)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Strabismus (HP:0000486)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Cataract (HP:0000518)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Cataract (HP:0000518)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Ptosis (HP:0000508)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Visual impairment (HP:0000505)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Visual impairment (HP:0000505)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Prominent forehead (HP:0011220)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Visual loss (HP:0000572)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TWNK
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: TWNK
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)