TaoMedAI/RareMedData huggingface dataset:
Gene: SETX
Phenotype: Slowly progressive (HP:0003677)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Pallor of dorsal columns of the spinal cord (HP:0006825)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Strabismus (HP:0000486)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Pes cavus (HP:0001761)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: EMC1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Dystonia (HP:0001332)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Short upper lip (HP:0000188)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Anal atresia (HP:0002023)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Vitiligo (HP:0001045)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Progressive (HP:0003676)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Dystonic gait (HP:0031954)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Short philtrum (HP:0000322)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Astigmatism (HP:0000483)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Strabismus (HP:0000486)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Esotropia (HP:0000565)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Esotropia (HP:0000565)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: EMC1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EMC1
Phenotype: Myopia (HP:0000545)
Associated disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Gene: EMC1
Phenotype: Myopia (HP:0000545)
Associated disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Gene: SETD1B
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Full cheeks (HP:0000293)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Square face (HP:0000321)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Flat occiput (HP:0005469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: SETD1B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Gene: VWA8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Iris atrophy (HP:0001089)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Amblyopia (HP:0000646)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VWA8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Gene: VWA8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)