TaoMedAI/RareMedData huggingface dataset:
Gene: ATP13A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Tremor (HP:0001337)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Tremor (HP:0001337)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Myoclonus (HP:0001336)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Myoclonus (HP:0001336)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Stooped posture (HP:0025403)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Palmomental reflex (HP:0030902)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Rigidity (HP:0002063)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Rigidity (HP:0002063)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Postural instability (HP:0002172)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Postural instability (HP:0002172)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Adult onset (HP:0003581)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Exodeviation (HP:0020049)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Paraparesis (HP:0002385)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Visual hallucination (HP:0002367)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Resting tremor (HP:0002322)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Akinesia (HP:0002304)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Fever (HP:0001945)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Hallucinations (HP:0000738)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Hallucinations (HP:0000738)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Hallucinations (HP:0000738)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Short attention span (HP:0000736)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Apathy (HP:0000741)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Depression (HP:0000716)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Dementia (HP:0000726)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Dementia (HP:0000726)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Dementia (HP:0000726)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Dementia (HP:0000726)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Hyposmia (HP:0004409)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Fatigue (HP:0012378)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Fatigue (HP:0012378)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Facial myokymia (HP:0000317)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Anosmia (HP:0000458)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Torticollis (HP:0000473)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: EXOSC2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Motor delay (HP:0001270)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Broad columella (HP:0010761)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Broad thumb (HP:0011304)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Wide nasal base (HP:0012810)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Hypertension (HP:0000822)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: High myopia (HP:0011003)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Glaucoma (HP:0000501)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: EXOSC2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EXOSC2
Phenotype: Myopia (HP:0000545)
Associated disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Gene: DICER1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Thyroid nodule (HP:0025388)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)