TaoMedAI/RareMedData huggingface dataset:
Gene: GBA2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Upper limb dysmetria (HP:0020036)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Head tremor (HP:0002346)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Head tremor (HP:0002346)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Head tremor (HP:0002346)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Dementia (HP:0000726)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Infertility (HP:0000789)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Infertility (HP:0000789)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Abnormal sperm morphology (HP:0012864)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Cataract (HP:0000518)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: SLC7A14
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Gene: SLC7A14
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SLC7A14
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC7A14
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRX
Phenotype: Ulnar claw (HP:0001178)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Split hand (HP:0001171)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Areflexia (HP:0001284)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Steppage gait (HP:0003376)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Basal lamina onion bulb formation (HP:0003400)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)