TaoMedAI/RareMedData huggingface dataset:
Gene: NDE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Small forehead (HP:0000350)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Wide nose (HP:0000445)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LISSENCEPHALY 4 (OMIM:614019)
Gene: NDE1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: NDE1
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROHYDRANENCEPHALY (OMIM:605013)
Gene: NDE1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: NDE1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Hydranencephaly (ORPHA:2177)
Gene: TRPM7
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Parkinsonism (HP:0001300)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Paralysis (HP:0003470)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: TRPM7
Phenotype: Dementia (HP:0000726)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Gene: BCAS3
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Tetraplegia (HP:0002445)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Seizure (HP:0001250)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Hypotonia (HP:0001252)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Spasticity (HP:0001257)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Inability to walk (HP:0002540)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Dystonia (HP:0001332)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Absent speech (HP:0001344)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Open mouth (HP:0000194)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Gait imbalance (HP:0002141)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Dyskinesia (HP:0100660)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Nystagmus (HP:0000639)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Tooth malposition (HP:0000692)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Synophrys (HP:0000664)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Short stature (HP:0004322)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Epicanthus (HP:0000286)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Long face (HP:0000276)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Microcephaly (HP:0000252)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Short philtrum (HP:0000322)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Strabismus (HP:0000486)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Ptosis (HP:0000508)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: BCAS3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Gene: ASPN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: ASPN
Phenotype: Osteoarthritis of the distal interphalangeal joint (HP:0006233)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: ASPN
Phenotype: Osteoarthritis of the first carpometacarpal joint (HP:0006226)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: ASPN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: ASPN
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: ASPN
Phenotype: Arthralgia (HP:0002829)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 3 (OMIM:607850)
Gene: VPS13C
Phenotype: Limb dystonia (HP:0002451)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Confusion (HP:0001289)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Spasticity (HP:0001257)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Falls (HP:0002527)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Slurred speech (HP:0001350)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Akinesia (HP:0002304)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Freezing of gait (HP:0031825)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Cachexia (HP:0004326)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Apathy (HP:0000741)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
Gene: VPS13C
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: VPS13C
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: GDAP2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Gliosis (HP:0002171)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Apathy (HP:0000741)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Torticollis (HP:0000473)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: GDAP2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Gene: APTX
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Motor delay (HP:0001270)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AOA1; Ataxia-oculomotor apraxia type 1 (ORPHA:1168)
Gene: APTX
Phenotype: Areflexia (HP:0001284)
Associated disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Gene: APTX
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: APTX
Phenotype: Ataxia (HP:0001251)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)