TaoMedAI/RareMedData huggingface dataset:
Gene: FXN
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Incoordination (HP:0002311)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Clumsiness (HP:0002312)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormality of the dorsal column of the spinal cord (HP:0011397)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Nystagmus (HP:0000639)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Nystagmus (HP:0000639)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Nystagmus (HP:0000639)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Anxiety (HP:0000739)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Depression (HP:0000716)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Abnormal medulla oblongata morphology (HP:0011441)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormality of the spinocerebellar tracts (HP:0003133)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Mitochondrial malic enzyme reduced (HP:0003232)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Mitochondrial malic enzyme reduced (HP:0003232)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Decreased pyruvate carboxylase activity (HP:0003209)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Decreased pyruvate carboxylase activity (HP:0003209)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Impaired visually enhanced vestibulo-ocular reflex (HP:0030183)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Dysphonia (HP:0001618)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Muscular subvalvular aortic stenosis (HP:0001691)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Restless legs (HP:0012452)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Hammertoe (HP:0001765)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Pes cavus (HP:0001761)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Pes cavus (HP:0001761)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Pes cavus (HP:0001761)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Visual impairment (HP:0000505)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FRA16E
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: FRA16E
Phenotype: Growth delay (HP:0001510)
Associated disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Gene: MTOR
Phenotype: Capillary malformation (HP:0025104)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Astrocytosis (HP:0002446)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Sporadic (HP:0003745)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hemiparesis (HP:0001269)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Seizure (HP:0001250)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Seizure (HP:0001250)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Seizure (HP:0001250)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Hypotonia (HP:0001252)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hypospadias (HP:0000047)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Megalencephaly (HP:0001355)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Pachygyria (HP:0001302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Open mouth (HP:0000194)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Open mouth (HP:0000194)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Wide mouth (HP:0000154)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Wide mouth (HP:0000154)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Asthma (HP:0002099)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Lactose intolerance (HP:0004789)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Gliosis (HP:0002171)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Infantile onset (HP:0003593)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Adult onset (HP:0003581)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Curly hair (HP:0002212)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Curly hair (HP:0002212)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Focal cortical dysplasia type II (HP:0032051)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hemangioma (HP:0001028)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: MTOR
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Short nose (HP:0003196)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Short proximal phalanx of finger (HP:0010241)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Diastasis recti (HP:0001540)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Diastasis recti (HP:0001540)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Large for gestational age (HP:0001520)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Allergy (HP:0012393)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hemianopia (HP:0012377)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)