TaoMedAI/RareMedData huggingface dataset:
Gene: EDAR
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Ridged nail (HP:0001807)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: MAGED2
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: MAGED2
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (OMIM:300971)
Gene: PRDX3
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET (OMIM:619871)
Gene: PRDX3
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET (OMIM:619871)
Gene: PRDX3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Posterior corneal stroma punctiform multicolored opacities (HP:0034327)
Associated disease: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET (OMIM:619871)
Gene: PRDX3
Phenotype: Hypomimic face (HP:0000338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Torticollis (HP:0000473)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: PRDX3
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Gene: AFG3L2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Spasticity (HP:0001257)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Dystonia (HP:0001332)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Rigidity (HP:0002063)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Memory impairment (HP:0002354)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Head tremor (HP:0002346)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Photophobia (HP:0000613)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Depression (HP:0000716)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Abnormal Ishihara plate test (HP:0030586)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive spastic ataxia type 5; SPAX5; Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome (ORPHA:313772)
Gene: AFG3L2
Phenotype: Ptosis (HP:0000508)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Ptosis (HP:0000508)
Associated disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Gene: AFG3L2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SCA28; Spinocerebellar ataxia type 28 (ORPHA:101109)
Gene: AFG3L2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Gene: AFG3L2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AFG3L2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 12 (OMIM:618977)
Gene: AFG3L2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)