TaoMedAI/RareMedData huggingface dataset:
Gene: NAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACETYLATION, SLOW (OMIM:243400)
Gene: NAT2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: ACETYLATION, SLOW (OMIM:243400)
Gene: AARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Head titubation (HP:0002599)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Cheyne-Stokes respiration (HP:0012196)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Grasp reflex (HP:0030903)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Rigidity (HP:0002063)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Babinski sign (HP:0003487)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Adult onset (HP:0003581)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Woolly hair (HP:0002224)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Esodeviation (HP:0020045)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Personality changes (HP:0000751)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Dementia (HP:0000726)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)