TaoMedAI/RareMedData huggingface dataset:
Gene: SATB2
Phenotype: Flat occiput (HP:0005469)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Coloboma (HP:0000589)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUX2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Falls (HP:0002527)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Personality disorder (HP:0012075)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Athetosis (HP:0002305)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CUX2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Gene: CUX2
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: DNAJC13
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: DNAJC13
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: TRIM2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: TRIM2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Gene: RPGRIP1L
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Gene: RPGRIP1L
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Postaxial hand polydactyly (HP:0001162)
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: RPGRIP1L
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1L
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Gait disturbance (HP:0001288)
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: RPGRIP1L
Phenotype: Seizure (HP:0001250)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Seizure (HP:0001250)
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: RPGRIP1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Hypotonia (HP:0001252)
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: RPGRIP1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Ataxia (HP:0001251)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Ataxia (HP:0001251)
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: RPGRIP1L
Phenotype: Ataxia (HP:0001251)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPGRIP1L
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1L
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: RPGRIP1L
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
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: RPGRIP1L
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Highly arched eyebrow (HP:0002553)
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: RPGRIP1L
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPGRIP1L
Phenotype: Brainstem dysplasia (HP:0002508)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)
Gene: RPGRIP1L
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: RPGRIP1L
Phenotype: Renal insufficiency (HP:0000083)
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: RPGRIP1L
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: COACH SYNDROME 3 (OMIM:619113)
Gene: RPGRIP1L
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: JOUBERT SYNDROME 7 (OMIM:611560)