TaoMedAI/RareMedData huggingface dataset:
Gene: HYMAI
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Retrognathia (HP:0000278)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Prominent occiput (HP:0000269)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: High palate (HP:0000218)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: HYMAI
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: HYMAI
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Micrognathia (HP:0000347)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Prominent nose (HP:0000448)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Shallow orbits (HP:0000586)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: KNL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Synophrys (HP:0000664)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: KNL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KNL1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
Gene: CPA6
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Gene: CPA6
Phenotype: Visually-induced seizure (HP:0020216)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Gene: CPA6
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Gene: CPA6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Gene: CPA6
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Gene: CPA6
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Gene: CPA6
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: CPA6
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: RPGRIP1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Retinal flecks (HP:0012045)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Eye poking (HP:0001483)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RPGRIP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Gene: RPGRIP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Gene: RPGRIP1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RPGRIP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RPGRIP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: RPGRIP1
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)