TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFAF1
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Gene: NDUFAF1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: RDH11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Attached earlobe (HP:0009907)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Attached earlobe (HP:0009907)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Broad columella (HP:0010761)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Incoordination (HP:0002311)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Diastema (HP:0000699)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Short stature (HP:0004322)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Short stature (HP:0004322)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Malar flattening (HP:0000272)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Malar flattening (HP:0000272)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Patchy atrophy of the retinal pigment epithelium (HP:0007791)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Low-set ears (HP:0000369)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Micrognathia (HP:0000347)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Macrotia (HP:0000400)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Short neck (HP:0000470)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Cataract (HP:0000518)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Retinal dystrophy-juvenile cataract-short stature syndrome; Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
Gene: RDH11
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Gene: RDH11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH11
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KMT5B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Poor suck (HP:0002033)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)