TaoMedAI/RareMedData huggingface dataset:
Gene: MATR3
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Imperfect vocal cord adduction (HP:0005934)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Inflammatory myopathy (HP:0009071)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Dementia (HP:0000726)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Dementia (HP:0000726)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Abnormality of the extraocular muscles (HP:0008049)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Aspiration (HP:0002835)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Aspiration (HP:0002835)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Weak voice (HP:0001621)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DHX38
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Macular coloboma (HP:0001116)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Visual acuity no light perception (HP:0030553)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Cataract (HP:0000518)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Gene: DHX38
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHX38
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX38
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA0586
Phenotype: Brachydactyly (HP:0001156)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Open operculum (HP:0100954)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Meningocele (HP:0002435)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Duane anomaly (HP:0009921)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)